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Abstract Background Niemann-pick C1-like 1 (NPC1L1) is a key protein for intestinal cholesterol transportation. Common single nucleotide polymorphisms (SNPs) in the NPC1L1 gene have been associated with cholesterol absorption and serum lipid levels. The present study was undertaken to explore the possible association of NPC1L1 rs2072183 1735 C > G SNP and several environmental factors with serum lipid levels in the Mulao and Han populations. Methods Genotyping of the rs2072183 SNP was performed in 688 subjects of Mulao and 738 participants of Han Chinese. The interactions between NPC1L1 1735 C > G polymorphism and several environmental factors on serum lipid phenotypes were tested using the factorial design covariance analysis after controlling for potential confounders. Results The frequency of G allele was lower in Mulao than in Han (29.72% vs. 37.26%, P P P P P P P P P Conclusions The present study suggests that the rs2072183 SNP in NPC1L1 gene and its association with serum lipid profiles are different between the Mulao and Han populations. The difference in serum lipid profiles between the two ethnic groups might partly result from different rs2072183 SNP or NPC1L1 gene-environmental interactions.

Abstract Background The association of UDP-N-acetyl-alpha-D-galactosamine: polypeptide N-acetylgalactosaminyltransferase 2 gene (GALNT2) single nucleotide polymorphisms (SNPs) and serum lipid profiles in the general population is not well known. The present study was undertaken to detect the association of GALNT2 polymorphisms and several environmental factors with serum lipid levels in the Guangxi Mulao and Han populations. Method A total of 775 subjects of Mulao nationality and 699 participants of Han nationality were randomly selected from our stratified randomized cluster samples. Genotyping of the GALNT2 rs2144300 and rs4846914 SNPs was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing. Results There were no significant differences in the genotypic and allelic frequencies of both SNPs between the two ethnic groups, or between the males and females. The subjects with TT genotype of rs2144300 in Mulao had lower serum triglyceride (TG) levels than the subjects with CC genotype in females (P < 0.01). The participants with CT/TT genotype of rs2144300 in Han had lower TG and apolipoprotein (Apo) B levels, and higher high-density lipoprotein cholesterol (HDL-C), ApoA1 levels and the ratio of ApoA1 to ApoB in males; and higher low-density lipoprotein cholesterol (LDL-C) and ApoB levels in females than the participants with CC genotype (P < 0.05-0.001). The individuals with GA/AA genotype of rs4846914 in Mulao had higher total cholesterol (TC) and LDL-C levels than the individuals with GG genotype in males (P < 0.05 for each). The subjects with AA genotype of rs4846914 in Han had higher LDL-C and ApoB levels, and lower HDL-C levels and the ratio of ApoA1 to ApoB than the subjects with GG genotype (P < 0.05 for each). The levels of TC in Mulao were correlated with the genotypes of rs4846914 in males (P < 0.05). The levels of ApoA1 in Han were correlated with the genotypes of both SNPs, and the levels of HDL-C and ApoB and the ratio of ApoA1 to ApoB were associated with the genotypes of rs2144300 in males (P < 0.05-0.001). The levels of LDL-C in Han were correlated with the genotypes of rs4846914 in females (P < 0.05). Serum lipid parameters were also correlated with several enviromental factors. Conclusions The associations of both GALNT2 rs2144300 and rs4846914 SNPs and serum lipid levels are different in the Mulao and Han populations. These discrepancies might partly result from different GALNT2 gene-enviromental interactions.

Abstract Background Several genetic variants in the ATP-binding cassette transporter A1 (ABCA1) gene have associated with modifications of serum high-density lipoprotein cholesterol (HDL-C) levels and the susceptibility for coronary heart disease, but the findings are still controversial in diverse racial/ethnic groups. Bai Ku Yao is an isolated subgroup of the Yao minority in southern China. The present study was undertaken to detect the possible association of V825I (rs2066715) polymorphism in the ABCA1 gene and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations. Methods A total of 677 subjects of Bai Ku Yao and 646 participants of Han Chinese were randomly selected from our previous stratified randomized cluster samples. Polymerase chain reaction and restriction fragment length polymorphism assay combined with gel electrophoresis were performed for the genotyping of V825I variant, and then confirmed by direct sequencing. Results The levels of serum total cholesterol (TC), HDL-C, apolipoprotein (Apo) AI and ApoB were lower in Bai Ku Yao than in Han (P < 0.01 for all). The frequency of G and A alleles was 57.4% and 42.6% in Bai Ku Yao, and 57.7% and 42.3% in Han (P > 0.05); respectively. The frequency of GG, GA and AA genotypes was 33.7%, 47.4% and 18.9% in Bai Ku Yao, and 33.4%, 48.6% and 18.0% in Han (P > 0.05); respectively. There was no difference in the genotypic and allelic frequencies between males and females in the both ethnic groups. The subjects with AA genotype in Bai Ku Yao had higher serum TC levels than the subjects with GG and GA genotypes (P < 0.05). The participants with AA genotype in Han had lower serum HDL-C and ApoAI levels than the participants with GG and GA genotypes (P < 0.05 for each), but these results were found in males but not in females. Multivariate linear regression analysis showed that the levels of TC in Bai Ku Yao and HDL-C and ApoAI in male Han were correlated with genotypes (P < 0.05 for all). Serum lipid parameters were also correlated with sex, age, body mass index, alcohol consumption, and blood pressure in both ethnic groups (P < 0.05-0.001). Conclusion The present study suggests that the V825I polymorphism in the ABCA1 gene is associated with male serum HDL-C and ApoAI levels in the Han, and serum TC levels in the Bai Ku Yao populations. The difference in the association of V825I polymorphism and serum lipid levels between the two ethnic groups might partly result from different ABCA1 gene-enviromental interactions.

Abstract Background The association of peroxisome proliferator-activated receptor delta (PPARD) +294T > C polymorphism and serum lipid levels is inconsistent in several previous studies. Bai Ku Yao is an isolated subgroup of the Yao minority in China. The present study was undertaken to detect the association of PPARD +294T > C (rs2016520) polymorphism and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations. Methods A total of 609 subjects of Bai Ku Yao and 573 participants of Han Chinese were randomly selected from our previous stratified randomized cluster samples. Genotyping of the PPARD +294T > C polymorphism was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing. Results The levels of serum total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), apolipoprotein (Apo) AI and ApoB were lower in Bai Ku Yao than in Han (P < 0.001 for all). The frequency of T and C alleles was 77.50% and 22.50% in Bai Ku Yao, and 72.43% and 27.57% in Han (P < 0.01); respectively. The frequency of TT, TC and CC genotypes was 60.59%, 33.83% and 5.53% in Bai Ku Yao, and 52.18%, 40.50% and 7.32% in Han (P < 0.05); respectively. The subjects with CC genotype in Bai Ku Yao had higher serum LDL-C and ApoB levels and lower the ratio of ApoAI to ApoB than the subjects with TT and TC genotypes in females but not in males. The C allele carriers in Han had higher serum TC levels in males (P < 0.01) and ApoB levels in females (P < 0.05) than the C allele noncarriers. Serum TC and ApoB levels were correlated with genotypes in Han (P < 0.05 for each) but not in Bai Ku Yao. Serum lipid parameters were also correlated with sex, age, body mass index, alcohol consumption, cigarette smoking, and blood pressure in both ethnic groups. Conclusions These results suggest that the association of PPARD +294T > C polymorphism and serum lipid levels is different between the Bai Ku Yao and Han populations. The discrepancy between the two ethnic groups might partly result from different PPARD +294T > C polymorphism or PPARD gene-enviromental interactions.

Abstract Background Endothelial lipase (EL) is a major determinant of high-density lipoprotein-cholesterol (HDL-C) metabolism, but the association of endothelial lipase gene (LIPG) polymorphism and serum HDL-C levels is scarce and conflicting in diverse populations. Bai Ku Yao is an isolated subgroup of the Yao minority in China. This study was designed to detect the association of LIPG 584C > T (rs2000813) polymorphism and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations. Methods A total of 645 subjects of Bai Ku Yao and 638 participants of Han Chinese were randomly selected from our previous stratified randomized cluster samples. Genotyping of the LIPG 584C > T was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing. Results The levels of serum total cholesterol (TC), HDL-C, low-density lipoprotein cholesterol (LDL-C) and apolipoprotein (Apo) AI and ApoB were lower in Bai Ku Yao than in Han (P < 0.05 - 0.001). The frequency of C and T alleles was 73.5% and 26.5% in Bai Ku Yao, and 67.9% and 32.1% in Han (P < 0.01); respectively. The frequency of CC, CT and TT genotypes was 50.4%, 46.2% and 3.4% in Bai Ku Yao, and 41.4%, 53.1% and 5.5% in Han (P < 0.01); respectively. Serum HDL-C levels in both ethnic groups were different among the three genotypes (P < 0.05 for each). Serum TC levels in both ethnic groups were also different between the CC and CT/TT genotypes (P < 0.05 for each). The T allele carriers had higher serum HDL-C and TC levels than the T allele noncarriers. Multivariate logistic regression analysis showed that the levels of HDL-C and ApoB were correlated with genotypes in Bai Ku Yao (P < 0.05 for each), whereas the levels of TC and HDL-C were associated with genotypes in Han Chinese (P < 0.05 and P < 0.01). Serum lipid parameters were also correlated with several environmental factors in the both ethnic groups. Conclusions The frequency of LIPG 584T allele is lower in Bai Ku Yao than in Han Chinese. The LIPG 584T allele is associated with increased serum HDL-C, TC and ApoB levels. The differences in serum HDL-C, TC and ApoB levels between the two ethnic groups might partly result from different genotypic and allelic frequencies of LIPG 584C > T or different LIPG-enviromental interactions.

Little is known about the association between the single nucleotide polymorphisms ( SNPs) and haplotypes of the dedicator of cytokinesis 7 ( DOCK7), pro-protein convertase subtilisin/kexin type 9 ( PCSK9) and polypeptide N-acetylgalactosaminyltransferase 2 ( GALNT2) and serum lipid traits in the Chinese populations. This study was to determine the association between nine SNPs in the three genes and their haplotypes and hypercholesterolaemia ( HCH)/hypertriglyceridaemia ( HTG), and to identify the possible gene-gene interactions among these SNPs. Genotyping was performed in 733 HCH and 540 HTG participants. The haplotype of C-C-G-C-T-G-C-C-G [in the order of DOCK7 rs1168013 (G>C), rs10889332 (C>T); PCSK9 rs615563 (G>A), rs7552841 (C>T), rs11206517 (T>G); and GALNT2 rs1997947 (G>A), rs2760537 (C>T), rs4846913 (C>A) and rs11122316 (G>A) SNPs] was associated with increased risk of HCH and HTG. The haplotypes of C-C-G-C-T-G-C-C-A and G-C-G-T-T-G-T-C-G were associated with a reduced risk of HCH and HTG. The haplotypes of G-C-G-C-T-G-C-C-A and G-C-G-C-T-G-T-C-G were associated with increased risk of HCH. The haplotypes of C-T-G-C-T-G-C-C-G, G-C-A-C-T-G-C-C-G and G-C-G-C-T-G-C-C-A were associated with an increased risk of HTG. The haplotypes of G-C-G-C-T-G-T-C-A and G-C-G-T-T-G-T-C-G were associated with a reduced risk of HTG. In addition, possible inter-locus interactions among the DOCK7, PCSK9 and GALNT2 SNPs were also noted. However, further functional studies of these genes are still required to clarify which SNPs are functional and how these genes actually affect the serum lipid levels. [ABSTRACT FROM AUTHOR]

Background The interactions between apolipoprotein ( Apo) A1/ C3/ A5 haplotypes and alcohol consumption on serum lipid profiles have not been previously explored. The present study was undertaken to detect the polymorphisms of Apo A1 −75 bp G> A (rs1799837), Apo C3 3238 C> G (rs5128), Apo A5 −1131 T> C (rs662799), Apo A5 c.553 G> T (rs2075291), and Apo A5 c.457 G> A (rs3135507) and the interactions between their haplotypes and alcohol consumption on serum lipid levels. Methods Genotyping was performed in 1,030 unrelated subjects (516 nondrinkers and 514 drinkers) aged 15 to 89. The interactions between Apo A1/ C3/ A5 haplotypes and alcohol consumption on serum lipid levels were detected by factorial regression analysis after controlling for potential confounders. Results The frequencies of Apo C3 3238 CG/ GG genotypes and Apo A1 −75 bp A allele in nondrinkers were higher in females than in males ( p < 0.05). The frequencies of Apo C3 3238 CG/ GG genotypes and G allele in drinkers were higher in females than in males ( p < 0.05). The frequencies of Apo A1 −75 bp GA/ AA genotypes and A allele in males were higher, and those of Apo C3 3238 CG/ GG genotypes were lower in drinkers than in nondrinkers ( p < 0.05 to 0.01). The frequency of Apo C3 3238 GG genotype in male drinkers was also higher in ≥25 g/d than in <25 g/d subgroups ( p < 0.05). There were 11 haplotypes with a frequency >1% in our study population. The haplotypes of G- G- T- C- G (in the order of c.553 G> T, c.457 G> A, −1131 T> C, 3238 C> G, and −75 bp G> A), G- G- T- C- A, and G- G- C- G- G were shown consistent interactions with alcohol consumption to increase serum total cholesterol, high-density lipoprotein cholesterol ( HDL- C), and ApoA1 levels ( p < 0.05 to 0.001). The interactions between G- G- T- G- G ( HDL- C and Apo A1), G- G- C- C- A ( Apo A1), G- A- T- C- G (triglyceride), G- G- T- C- G ( Apo A1/ Apo B ratio), and G- G- C- G- G ( Apo B) haplotypes and alcohol consumption on serum lipid levels were also detected ( p < 0.05 to 0.001); the levels of these serum lipid parameters were significantly higher in drinkers than in nondrinkers. Conclusions The differences in serum lipid parameters between drinkers and nondrinkers might partly result from different interactions between the Apo A1/ C3/ A5 haplotypes and alcohol consumption. [ABSTRACT FROM AUTHOR]

To investigate the quality differences between the seeds and husks of Amomum villosum and explore the rationality of using the seeds without husks, this study determined the content of protocatechuic acid, vanillic acid, epicatechin, quercitrin, volatile oil, water extract, and ethanol extract. The 2,2-diphenyl-1-picrylhydrazyl(DPPH), 2,2-azino-bis(3-ethylbenzothiazoline-6-sulfonic acid)(ABTS), and hydroxyl radical scavenging activities were determined to evaluate the antioxidant activities of seeds and husks. The quality differences between the seeds and husks were assessed through orthogonal partial least squares-discriminant analysis(OPLS-DA) and analytic hierarchy process(AHP) combined with the entropy weight method(EWM). Significant differences(P&lt;0.05) were observed in all 10 indicators between the seeds and husks. The levels of epicatechin, quercetin, and volatile oil were higher in the seeds, whereas those of protocatechuic acid, vanillic acid, water extract, and ethanol extract were higher in the husks. The seeds showed stronger scavenging ability against DPPH and ABTS radicals, while the husks showed a stronger scavenging effect on hydroxyl radicals. OPLS-DA significantly discriminated between the seeds and husks. Furthermore, volatile oil, water extract, DPPH radical scavenging rate, quercitrin, ABTS radical scavenging rate, hydroxyl radical scavenging rate, and vanillic acid were selected as the main differential indicators by variable importance in projection(VIP). Comprehensive scores calculated by AHP combined with EWM indicated that the seeds were superior to husks in terms of overall quality. However, there are still some dominant components and a certain antioxidant effect in the husks. Therefore, it is suggested to using Amomi Fructus with a certain amount of husks or utilizing the husks for other purposes.

Jing nationality is a relatively conservative and isolated minority in China. Little is known about the association of the PIN2/TERF1-interacting telomerase inhibitor 1 ( PINX1 ) and N-acetyltransferase 2 ( NAT2 ) single nucleotide polymorphisms (SNPs) and serum lipid levels in the Chinese populations. This study aimed to clarify the association of 6 SNPs of the PINX1 and NAT2 and serum lipid levels in two Chinese populations. Genotyping of the SNPs was performed in 1236 Han subjects and 1248 Jing participants. Allelic and genotypic frequencies of these variants (except NAT2 rs1799931) were different between the two ethnic groups. The minor allele carriers had higher triglyceride (TG, rs11776767, rs1495743 and rs1799930), low-density lipoprotein cholesterol (rs6601530) levels and the apolipoprotein (Apo)A1/ApoB ratio (rs1495743) in Han nationality; and higher total cholesterol (rs1961456), TG (rs11776767, rs6601530 and rs1495743) and lower ApoA1 (rs6601530 and rs1799931) levels in Jing minority than the minor allele non-carriers. The SNPs were not statistically independent by the multiple-locus linkage disequilibrium analyses. The integrative haplotypes and gene-by-gene (G × G) interactions on serum lipid traits were also observed in the two populations. Association analysis based on haplotypes and G × G interactions might be powerful than single-locus tests. Differences in serum lipid profiles between the two populations might partially be attributed to these SNPs, their haplotypes and G × G interactions., Competing Interests: CONFLICTS OF INTEREST The authors have no potential conflicts of interest to report.

Maonan ethnic group is a relatively conservative and isolated minority in China. Little is known about the association of the mevalonate kinase ( MVK ), methylmalonic aciduria (cobalamin deficiency) cblB type ( MMAB ) single nucleotide polymorphisms (SNPs) and serum lipid levels. This study aimed to determine the association between four SNPs in the MVK/MMAB and serum lipid levels. Genotyping of the rs3759387, rs877710, rs7134594 and rs9593 SNPs was performed in 1264 Maonan subjects and 1251 Han participants. Allele and genotype frequencies of the selected SNPs were different between the two populations ( P < 0.05-0.001). Four SNPs were associated with high-density lipoprotein cholesterol (HDL-C) in the both ethnic groups ( P < 0.0125-0.001); and one SNP with apolipoprotein (Apo) A1 (rs7134594) in Han Chinese ( P < 0.0125). Strong linkage disequilibria were noted among the SNPs ( D '=0.63-0.96; r 2 =0.13-0.88). The commonest haplotype was C-C-C-T (> 50%). The frequencies of C-C-C-T, C-G-T-A, A-G-T-A, C-G-C-T, and A-C-T-A were different between the two populations ( P < 0.001). The associations between haplotypes and dyslipidemia were different in the Han and/or Maonan population ( P < 0.05-0.001), haplotypes could explain much more serum lipid variation than any single SNP alone especially for HDL-C. Differences in lipid profiles between the two populations might partially attribute to these SNPs and their haplotypes., Competing Interests: CONFLICTS OF INTEREST The authors have no potential conflicts of interest to report.

Fifteen batches of Glycyrrhizeae Radix standard decoction were prepared for determination of the content of the glycyrrhizic acid and liquiritin, then the transfer rate and the extract rate were calculated and a method was established to analyze the fingerprint by HPLC. According to the measurement of 15 batches of samples,the transfer rate of the glycyrrhizic acid and liquiritin were 59.4%-87.4% and 49.8%-78.9% with extract rate of 29.9%-38.9%. Moreover,10 common chromatographic peaks were determined based on their fingerprint by using similarity evaluation system for chromatographic fingerprint of traditional Chinese medicine (TCM)(2012A) .The similarity results of 15 batches of samples were analyzed and compared,and the results showed that the similarity was all higher than 0.9. Fifteen batches of samples,prepared by a standard method,have stable quality and the high similarity.The method displayed good precision,stability and repeatability in fingerprint analysis. Therefore,this study can provide a reference for the quality control of Glycyrrhizae Radix dispensing granules., Competing Interests: The authors of this article and the planning committee members and staff have no relevant financial relationships with commercial interests to disclose., (Copyright© by the Chinese Pharmaceutical Association.)

Both Jing and Mulao nationalities are the isolated minorities in China. Little is known about the prevalence of dyslipidemia between the two ethnic groups. Therefore, the aim of this study was to compare the differences in serum lipid profiles, the prevalence of dyslipidemia and their risk factors between the Jing and Mulao populations. A cross-sectional study of dyslipidemia was conducted in Dongxing city, Guangxi, China, during Dec 2011 and Jan 2012. A total of 1254 subjects of Jing and 1251 participants of Mulao were surveyed by a stratified randomized sampling. Information on demography, diet and lifestyle was collected with standardized questionnaire. Serum lipid levels were detected using the commercially available kits. The levels of low-density lipoprotein cholesterol (LDL-C), apolipoprotein (Apo) A1, and the ratio of ApoA1 to ApoB were lower but the levels of ApoB were higher in Jing than in Mulao (P < 0.001 for all). The prevalence of hypertriglyceridemia (32.38% vs. 24.38%), high ApoB (35.25% vs. 15.35%) and low ApoA1/ApoB ratio (22.65% vs. 16.87%) was higher and low high-density lipoprotein cholesterol (0.48% vs. 2.16%), high LDL-C (17.54% vs. 40.53%) and low ApoA1 (5.98% vs. 11.43%) was lower in Jing than in Mulao (P < 0.001 for all). The risk factors for serum lipid parameters and hyperlipidemia were different between the two ethnic groups. Serum lipid profiles, the prevalence of dyslipidemia and their risk factors are different between the Jing and Mulao populations. These differences may result from the combined effects of different diet, lifestyle, and genetic factors.

The association of ADP-ribosylation factor-like 15 (ARL15) rs6450176 single nucleotide polymorphism (SNP) and serum lipid profiles has never been studied in the Chinese population. The present study was undertaken to detect the association of ARL15 rs6450176 SNP and several environmental factors with serum lipid levels in the Jing and Han populations. Genotypes of the SNP were determined in 726 unrelated subjects of Jing nationality and 726 participants of Han nationality. The genotypic and allelic frequencies of the SNP in Jing but not in Han were different between males and females (P < 0.001 and P < 0.05; respectively). The G allele carriers in Han had lower serum total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C) and apolipoprotein (Apo) B levels, and higher ApoA1/ApoB ratio than the G allele non-carriers (P < 0.05-0.01). The G allele carriers in Jing had lower serum TC, high-density lipoprotein cholesterol (HDL-C), ApoA1, ApoB levels and higher ApoA1/ApoB ratio than the G allele non-carriers (P < 0.05 for all). Subgroup analyses showed that the G allele carriers had lower TC and LDL-C levels in Han males; lower LDL-C and ApoB levels in Han females; lower ApoB levels and ApoA1/ApoB ratio in Jing males; and lower LDL-C levels in Jing females than the G allele non-carriers (P < 0.05-0.01). Multiple linear regression analysis showed that serum TC, LDL-C, ApoB levels and the ApoA1/ApoB ratio in Han; and TC, HDL-C and ApoA1 levels in Jing were correlated with the genotypes of the ARL15 rs6450176 SNP (P < 0.05-0.001). Serum lipid parameters were also associated with several environmental factors in both ethnic groups. These findings indicated that there may be a racial/ethnic- and/or sex-specific association of the ARL15 rs6450176 SNP and serum lipid levels.

This study aimed to detect the association of the suppressor of cytokine signaling 3 gene (SOCS3) A+930-->G (rs4969168) single nucleotide polymorphism (SNP) and environmental factors with serum lipid levels in the Han and Mulao populations. Genotyping of the SOCS3 A+930-->G (rs4969168) SNP was performed in 752 of Han and 690 of Mulao participants using polymerase chain reaction and restriction fragment length polymorphism. The genotype and allele frequencies were significantly different between the Han and Mulao populations (GG, 57.71% vs. 51.16%, GA, 36.97% vs. 41.16%, AA, 5.32% vs. 7.68%, P = 0.023; G, 76.20% vs. 71.74%, A, 23.80% vs. 28.26%; P = 0.006; respectively). Serum apolipoprotein (Apo) A1 levels in Han were different among the genotypes (P < 0.05). Subgroup analyses showed that the levels of ApoA1 in Han females, and ApoA1 and low-density lipoprotein cholesterol (LDL-C) in Mulao males were different among the genotypes (P < 0.05). Serum lipid parameters were also associated with several environmental factors in both ethnic groups (P < 0.05-0.001). These findings suggest that there may be a racial/ethnic- and/or sex-specific association between the SOCS3 A+930-->G (rs4969168) SNP and serum lipid parameters in some populations.

Objective: To conduct research of beta-Thalassemia incidence and genotypes on children below 7 years of age in Nanning, Liuzhou and Baise areas, Guangxi province., Methods: A total of 2261 children aged below 7 in Nanning, Liuzhou and Baise areas were studied. Venous blood was detected by routine blood test, hemoglobin analysis and beta-Thalassemia genotyping., Results: Among 2261 samples, 125 showed high level of HbA2 and were diagnosed as beta-Thalassemia (5.53%). Genotypes of the patients were classified as: 59 cases with beta-globin gene condon (CD) 41-42 mutation, 33 cases CD17 mutation, 18 cases with TA TA box nt-28 mutation, 7 with IVS-II-654 mutation, 3 with CD43 mutation, 3 with HbE mutation, one with CD71-72 and TATA box nt-29 mutation, respectively. The genotyping frequencies of beta-Thalassemia were as follows: 47.20% for CD41-42 mutation, 26.40% for CD17 mutation, 14.40% for TATAbox nt-28 mutation, 5.60% for IVS-II-654 mutation, 2.40% for CD43 mutation, 2.40% for HbE mutation, 0.80% for CD71-72 mutation and TATAbox nt-29 mutation respectively., Conclusion: This study on children in the area with high incidence of beta-Thalassemia reflected the incidence and characteristics of genotypes in this area. Our data also provided evidence for the development of a program on genetic counseling and prevention for thalassemia.

Objective: To study the effect of liposomal transfection of antisense oligonucleotide (ASON) on the erythroid cell alpha-globin gene in the patients with severe beta-thalassemia, and provide a new idea for beta-thalassemia gene therapy., Methods: A highly effective ASON targeting alpha-globin gene was transfected into severe beta-thalassemic erythroid cells cultured in vitro by liposomal at an optimal concentration. The expression level of alpha, beta, gamma-globin gene, the level of hemoglobin, and the excess alpha-globin chains precipitates in ASON group and control group were carefully analyzed by quantitative real-time PCR(Q-RT-PCR), high performance liquid chromatography (HPLC), and electron microscope, respectively., Results: The mRNA expression of alpha-globin gene was significantly lower in ASON group (9.04 +/- 0.29) than in control group (24.23 +/- 0.29) (P<0.01). Simultaneously, the disequilibrium between alpha- and beta-, gamma-globin gene expression was partly modified by ASON, the ratios of ASON group and control group being 0.79 +/- 0.02 and 2.26 +/- 0.06 respectively (P<0.01). HPLC demonstrated that the levels of HbA2 and HbF increased with downregulation of alpha-globin gene in beta-thalassemic erythroid cells, particularly HbF. The precipitates of alpha-globin chains in ASON group were lessened under electron microscope, particularly in early erythroblast while no change in the control group., Conclusion: The high effective ASON contributes to inhibit the alpha-globin gene expression of severe beta-thalassemic erythroid cells, partly modify the disequilibrium between alpha-, beta- and gamma-globin gene expression and obviously reduce the precipitates of alpha-globin chains in erythroid cells. It might provide a new idea for gene therapy of beta-thalassemia.

Objective: To explore a new noninvasive method for Hb Bart' s hydrops fetus by using PCR amplification efficiency discrimination between cell-free fetal DNA (cffDNA) and cell-free maternal DNA in maternal plasma., Methods: CffDNA samples from pregnant women bearing possible Hb Bart's hydrops fetus were collected. Fluorescent PCR and capillary electrophoresis (CE) were performed. Hb Bart's hydrops fetus was conclusively identified by different peak area ratio of products., Results: The peak area ratio of 30 cffDNA samples from Hb Bart' s hydrops fetus was much less than 1. However, the ratio of cffDNA sample from hydrops fetus due to other reasons was approximately equal to 1., Conclusion: By using cffDNA fluorescent PCR and CE, a prenatal screening method for Hb Bart' s hydrops fetus was developed.

Objective: To observe the prevalence of hypertension and associated risk factors in the Guangxi Bai Ku Yao populations., Methods: A total of 1170 subjects of Bai Ku Yao aged 15 and over were surveyed by a stratified randomized cluster sampling. Blood pressure, body height, weight, waist circumference, serum lipid and apolipoprotein levels were measured, and body mass index (BMI) were calculated, matched 1173 subjects of Han Chinese from the same region served as control., Results: The standardized prevalence of hypertension in Bai Ku Yao was significantly lower than that in Han (11.53% vs.16.79%, P < 0.01). The mean levels of systolic, diastolic blood pressure, and pulse pressure in Bai Ku Yao were also significantly lower than those in Han [(115.7 +/- 16.3) vs. (120.0 +/- 16.3) mm Hg (1 mm Hg = 0.133 kPa), P < 0.01; (74.1 +/- 9.4) vs. (75.9 +/- 10.4) mm Hg, P < 0.01; and (41.6 +/- 12.0) vs. (44.2 +/- 11.2) mm Hg, P < 0.01; respectively]. Hypertension was positively correlated with male, age, physical activity, BMI, waist circumference, and the intakes of total energy, total fat, and sodium, and negatively associated with education level in both ethnic groups (P < 0.05 - 0.01), but was positively associated with alcohol consumption only in Han. The rates of awareness, treatment and control of hypertension were significantly lower in Bai Ku Yao than those in Han population [(11.81% vs. 21.76%), P < 0.05; (5.51% vs. 12.95%), P < 0.05; and (2.36% vs. 8.29%), P < 0.05; respectively]., Conclusion: The prevalence of hypertension was significantly lower in Bai Ku Yao population than in Han population and diet, low sodium intake, life style, and genetic factors might be responsible for the lower hypertension prevalence in Bai Ku Yao population.

Objective: To study the relationship between the polymorphism of the variable number of tandem repeats region 3' of the apolipoprotein B gene (3'APOB-VNTR) and serum lipid levels in the Guangxi Heiyi Zhuang population., Methods: A total of 548 people of Heiyi Zhuang nationatity were surveyed by a cluster sampling. Epidemiological data were collected and serum lipid and apolipoprotein levels were measured. The genotypes and alleles of the 3' APOB-VNTR were determined by polymerase chain reaction combined with gel electrophoresis, and then analyzed by direct sequencing in the most common alleles. The results were compared with those in 496 people of Han nationality also live in that district., Results: There were 19 alleles of the 3'APOB-VNTR in both ethnic groups. They were hypervariable elements (HVEs) 24, 26, 28, 30, 32, 34, 36, 38, 40, 42, 44, 46, 48, 50, 52, 54, 56, 58, 60, 62 and 64, but HVEs 56 and 58 in Heiyi Zhuang nationality and HVEs 48 and 62 in Han nationality were not be detected. The most common allele is HVE32 in Heiyi and Zhuang nationality (25.9%), and HVE34 in Han nationality (27.2%). The frequencies of HVEs 26, 30, 46, heterozygote, and short alleles (< 38 repeats, S) were higher in Heiyi Zhuang nationality than in Han nationality, whereas the frequencies of HVEs 34, 38, 40, homozygote, and long alleles (>or= 38 repeats, L) were lower in Heiyi Zhuang nationality than in Han nationality. The levels of total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C) and apolipoprotein (apo) B in Heiyi Zhuang nationality were higher in VNTR-LS (carrier of one long and one short alleles) than in VNTR-LL genotypes (the individual carrying two long alleles) genotypes. The levels of TC, triglycerides, HDL-C and apo B in Heiyi Zhuang nationality were also higher in homozygotes than in heterozygotes. There were no significant differences in the detected lipid parameters between the VNTR-SS (carrier of two short alleles) and VNTR-LS or VNTR-LL genotypes in both ethnic groups., Conclusion: The 3'APOB-VNTR polymorphism is found to be significant difference between Heiyi Zhuang nationality and Han populations, and is associated with the serum lipid levels in Heiyi Zhuang nalionality but not in Han nationality.

Objective: To investigate non-invasive prenatal genetic diagnosis of beta-thalassaemia using a single fetal nucleated erythrocyte (NRBC) from maternal blood by comparing with the genotype obtained from chorionic villus or amniocytes, and to evaluate the diagnostic results in reliability and feasibility of this method., Methods: Maternal blood samples were obtained from 28 pregnant women at risk of beta thalassaemia during 9 - 34 weeks of gestation. NRBCs in maternal blood were enriched by single density gradient separation, stained with benzidine, and then collected by micromanipulation individually. After primer extension preamplification (PEP) of the entire genome from each single NRBC, short tandem repeat (STR) genotype was analyzed after further amplification of this gene. Single NRBC was tested individually to identify if it was fetal or maternal in origin by STR genotype of NRBC and its corresponding parents. beta-globin DNA fragments were amplified with nested-PCR using PEP product of a single fetal NRBC that was determined to be fetal in origin. Fetal beta-globin genotypes were analyzed by reverse dot-blot hybridization (RDB), the accuracy was evaluated by comparing with genotype which had been determined on DNA obtained from chorionic villus (CVS) or amniocytes., Results: A total of 298 NRBCs were found in all of 28 pregnant women at a range of 4 to 13 per 5 ml venous blood. After PEP, about 43.6% of NRBCs were determined to be fetal in origin by STR typing. Using PEP product of a single fetal NRBC as template, beta-globin DNA fragment was examined on agarose gel after nested-PCR, amplification efficiency was 90.8% (118/130). Fetal beta-globin genotypes were achieved successfully in all cases with RDB. Comparing with the genotypes which were obtained from CVS or amniocytes, the rate of diagnostic accuracy was 85.7% (24/28)., Conclusions: PEP technique and STR genotype analysis provide effective method for identification of single nucleated erythrocyte from maternal blood in origin. With the techniques PEP and RDB, fetal beta-globin genetic diagnosis was achieved using a single fetal NRBC from maternal blood. The method had a high accuracy and reliability in diagnosis. It may become an optional approach to non-invasive prenatal diagnosis of beta-thalassemia.

Objective: To evaluate the value of diagnosis of alpha-thalassemia by analyzing fetal DNA in maternal plasma., Methods: Ten families were screened, the husbands being alpha-thalassemia Southeast Asia deletion (SEA alpha-thalassemia-1) heterozygotes and the pregnant women being alpha-thalassemia-2 heterozygotes. Fluorescent polymerase chain reaction (PCR) and gene scanning were used to detect the paternally inherited genotypes of SEA alpha-thalassemia-1 gene mutation and short tandem repeats (STRs) in the maternal plasma fetal DNA. The results were compared to those of conventional prenatal diagnosis of fetal DNA in amniotic fluid, chorionic villus or cord blood., Results: Paternally derived STR genotypes were detected in all specimens of plasma fetal DNA. Paternally inherited SEA alpha-thalassemia-1 gene mutation was detected in 4 cases, while the other 6 cases did not inherit the paternal mutation. The results were completely concordant with those of the conventional prenatal diagnosis., Conclusion: Noninvasive prenatal diagnostic method, the technique using fluorescent PCR and gene scanning to detect the fetal DNA and paternally inherited SEA alpha-thalassemia-1 gene mutation in maternal plasma helps exclude the fetuses with hemoglobin H diseases.

Objective: To conduct prenatal diagnosis on the couples carrying Thailand deletion (--THAI) alpha-thalassemia 1 and at high risk of having fetus with alpha-thalassemia., Methods: Genotypes of couples and fetuses were analyzed by PCR and DNA sequencing., Results: Four pregnant women were patients with Hb H diseases of --THAI compounding with alpha-thalassemia 2, while their husbands were heterozygote of the Southeast Asian type alpha-thalassemia 1 (--SEA). Another 5 families, either husbands or wives were heterozygote of --THAI or --SEA. The genotypes of their fetuses were as follows: 2 cases with Hb Bart's hydrops fetalis syndrome, 1 Hb H disease, 4 alpha-thalassemia heterozygote and 2 normal. The DNA sequencing approved the PCR results., Conclusion: The study on prenatal diagnosis of Thailand deletion alpha-thalassemia 1 is of importance to the genetic counseling and prenatal diagnosis of alpha-thalassemia.