Search

Identifying common genetic variations that are related to sudden cardiac death (SCD) is crucial since it can facilitate the diagnosis and risk stratification of SCD. It has been reported that COX10...

Peroxisome proliferator-activated receptor gamma coactivator 1-alpha (PPARGC1A) is a member of transcriptional coactivator of the peroxisome proliferator-activated receptor. It is involved in lipid...

Background/Aims: Polymorphisms in the enhancer of the lactase gene (LCT) are strongly associated with lactase persistence, but not always predictive of the phenotype. We investigated a possible association between the regulatory rs140433552*CA>del variant of LCT and lactose intolerance (LI). Methods: We genotyped 122 individuals for rs140433552 and rs4988235 (–13910*C>T). Results: Associations of rs140433552*CA>del with LI depend on –13910*C>T. Homozygous individuals for the C-CA haplotype, as well as C-CA+/C individuals, seem more likely to manifest LI (OR 3.33 [95% CI 1.32–8.35], p = 0.011, and OR 3.93 [95% CI 1.61–9.61], p = 0.003, respectively), while homozygous individuals for the T-CA haplotype seem more likely to be lactose tolerant (OR 0.04 [95% CI 0.002–0.70], p = 8 × 10–4). Conclusions: rs140433552*CA>del is not independently associated with LI.

Cell division cycle 25A (CDC25A), a member of the CDC25 family of phosphatases, is required for progression from G1 to the S phase of the cell cycle. CDC25A provides an essential function during early embryonic development in mice, suggesting that it plays an important role in growth and development. In this study, we used mathematical expectation (ME) methods to identify a 20-bp insertion/deletion (indel) polymorphism of CDC25A gene in Shaanbei White Cashmere (SBWC) goats. We also investigated the association between this 20-bp indel and growth-related traits in SBWC goats. Association results showed that the indel was related to growth traits (height at hip cross, cannon circumference, and cannon circumference index) in SBWC goats. The height at hip cross of individuals with insertion/insertion (II) genotype was higher than those with insertion/deletion (ID) genotype (P=0.02); on the contrary, the cannon circumference and cannon circumference index of individuals with ID genotype were superior when compared with those with II genotype (P=0.017 and P=0.009). These findings suggest that the 20-bp indel in the CDC25A gene significantly affects growth-related traits, and could be utilized as a candidate marker for marker-assisted selection (MAS) in the cashmere goat industry.

Sudden cardiac death (SCD) is a devastating complication of multiple disease processes and has gradually became a major public health issue. miR-155 is one of the best characterized miRNAs and plays a critical role in several physiological and pathological process, including cardiovascular diseases. In this study, we systematically screened the whole region of miR-155 host gene (MIR155HG) and identified a 4-bp insertion/deletion variant (rs72014506) residing in the intron region of MIR155HG as the candidate polymorphism. The association of rs72014506 with SCD susceptibility was evaluated using 166 SCD cases and 830 healthy controls in a Chinese population. Logistic regression analysis suggested that the homozygote del/del genotype significantly decreased the risk of SCD [odds ratio (OR) = 0.29; 95% confidence interval (CI) = 0.12–0.74; Ptrend = 0.0004]. Further genotype–expression association study using human myocardium tissue samples suggested that the deletion allele was intimately linked to lower the expression of both MIR155HG and mature miR155. Luciferase activity assay also revealed that the deletion allele of rs72014506 inhibited gene transcriptional activity. Finally, we performed electrophoretic mobility shift assay and verified the preferential binding affinity of the deletion allele with POU2F1 (POU domain class 2 transcription factor 1). Collectively, we have successfully identified a SCD risk conferring polymorphism in the MIR155HG gene and a likely biological mechanism for the decreased risk of SCD associated with the deletion allele. This novel variant may thus serve as a potential genetic marker for SCD diagnosis and prevention in natural populations, if validated by further studies with a larger sample size.

Most low-penetrance genetic risk factors for cancer are located in noncoding regions, presumably altering the regulation of neighboring genes. The poorly characterized Indel polymorphism rs150550023 (rs3730485, del1518) in the promoter of MDM2 (human homolog of mouse double minute 2) is a biologically plausible candidate genetic risk factor, which might influence the expression of MDM2, a key negative regulator of the central tumor suppressor p53. Here, we genotyped rs150550023 in a Central European hospital-based case&ndash, control study of 407 breast cancer patients and 254 female controls. mRNA levels of MDM2, p53, and the p53 target genes p21, BAX, and PERP were quantified with qRT-PCR, and p53 protein was assessed with immune histochemistry in &asymp, 100 primary breast tumors with ascertained rs150550023 genotype. We found no evidence for an association of rs150550023 with the risk, age at onset, or prognosis of breast cancer. A possible synergism was observed with SNP309 in promoter P2 of MDM2. Mean mRNA levels of MDM2, p53, p21, and BAX were &asymp, 1.5&ndash, 3 fold elevated in TP53 wildtype tumors with the minor homozygous Del/Del genotype. However, systematic shifts in p53 protein levels or mutation rates were not observed, suggesting that the elevated p53 mRNA levels are due to regulatory feedback loops that compensate for the effects of rs150550023 on MDM2 expression.

Histone deacetylases (HDACs) influence chromatin state and gene expression. Eighteen HDAC genes with important biological functions have been identified in rice. In this study, we surveyed the gene presence frequency of all 18 rice HDAC genes in 3,010 rice accessions. HDA710/OsHDAC2 showed insertion/deletion (InDel) polymorphisms in almost 98.8% japonica accessions but only 1% indica accessions. InDel polymorphism association analysis showed that accessions with partial deletions in HDA710 tended to display early leaf senescence. Further transgenic results confirmed that HDA710 delayed leaf senescence in rice. The over-expression of HDA710 delayed leaf senescence, and the knock-down of HDA710 accelerated leaf senescence. Transcriptome analysis showed that photosynthesis and chlorophyll biosynthesis related genes were up-regulated in HDA710 over-expression lines, while some programmed cell death and disease resistance related genes were down-regulated. Co-expression network analysis with gene expression view revealed that HDA710 was co-expressed with multiple genes, particularly OsGSTU12, which was significantly up-regulated in 35S::HDA710-sense lines. InDels in the promoter region of OsGSTU12 and in the gene region of HDA710 occurred coincidentally among more than 90% accessions, and we identified multiple W-box motifs at the InDel position of OsGSTU12. Over-expression of OsGSTU12 also delayed leaf senescence in rice. Taken together, our results suggest that both HDA710 and OsGSTU12 are involved in regulating the process of leaf senescence in rice.

Cellular Prion proteins have a wide variety of function from the birth of a cell to its programmed death. Prion protein can be the cause for a number of lethal animal and human diseases when misfolded. Furthermore, prion infection is transmissible. Polymorphisms of prion gene at different loci are associated with prion diseases development, the onset of symptoms and incubation period. Indel polymorphism in the promoter region of PRNP gene is found to be accoaited to BSE in cattle while the haplotype ARR at positions 136,154 and 171 is resistant to scrapie in sheep. Taking into account the severity of prion disease and its potential entrance to the food chain, genetic and clinical studies continued to be conducted in a different course of time in many countries.

Jute (Corchorus spp.) is one of the most commercially important bast fiber crops in the world. However, molecular markers and high-density genetic maps are still lacking on jute compared with other crops. Insertion/deletion (InDel) markers, one of the most abundant sources of DNA/RNA variations in plant genomes, can easily be distinguished among different accessions using high-throughput sequencing. Using three transcriptome datasets, we identified and developed InDel markers. Altogether, 51 172 InDel sites in 18 800 unigenes were discovered, and the number of InDel loci per unigene varied from 1 to 31. Further, we found 94 InDel types, varying from 1 to 159 bp; the most common were single-nucleotide (23 028), binucleotide (9824), and trinucleotide (9182). In total, 49 563 InDels in 18 445 transcripts were discovered in the comparison between TC and YG, followed by 48 934 InDels in 18 408 transcripts between NY and YG, and 3570 InDels in 2701 unigenes between NY and TC. Additionally, there were 1273 InDel sites in 1129 unigenes with polymorphisms between any two of the three accessions. Twenty-nine (58%) primer pairs represented polymorphisms when compared to the jute accessions, and PIC varied from 0.340 to 0.680, with an average of 0.491.

Изучена связь INDEL полиморфизма гена HLA-G с шизофренией и ее клиническими особенностями с учетом средового фактора. Выявлено взаимодействие изучаемого полиморфизма и преждевременных родов и его влияние на выраженность позитивной симптоматики у женщин-носителей генотипа I/I. The effect of INDEL polymorphism of the HLA-G gene on the risk of schizophrenia and its clinical features was studied. There was the interaction between this polymorphism and preterm birth as an environmental factor that influenced positive symptoms scores in women with the I/I genotype.

Using data obtained from domestic and foreign sources, we formed a set of primers and fluorogenic probes for analyzing twenty-six specific sequence polymorphisms and one reference gene. In the course of evaluating the effectiveness of real-time PCR, using the example of one of the markers (S01a), we obtained the optimal amount of DNA per reaction (70 ng), providing a resolution of at least 0.1% of the method with the ability to estimate linear chimerism. Formed panel of primers for genetic polymorphisms - InDel has a high degree of informational content for donor-recipient pairs of Russia. From January 2018 to June 2019, a quantitative assessment of the level of linear (CD3 +, CD34 +) and general chimerism was carried out for 28 patients of the clinic of the Institution. Finally, we analyzed patients who received allografts and present 4 different clinical situations that illustrate the informativity level of this method.

The Investigator DIPplex(®) kit (Qiagen) contain components for the simultaneous amplification and analysis of 30 biallelic autosomal INDELs and amelogenin. The objective of this study was to estimate the diversity of the 30 markers in Polish (N P = 122) and Taiwanese (N T = 126) population samples and to evaluate their usefulness in forensic genetics. All amplicon lengths were shorter than 160 base pairs. The DIPplex genotype distributions showed no significant deviation from Hardy-Weinberg rule expectations (Bonferroni corrected) except for DLH39 in the Taiwanese population. Among the Poles and the Taiwanese the mean observed heterozygosity values are 0.4385 and 0.4079, and the combined matching probability values are 7.98 × 10(-14) and 1.22 × 10(-11), respectively. The investigated marker set has been confirmed as a potential extension to standard short tandem repeat-based kits or a separate informative system for individual identification and kinship analysis. Eight INDELs have been selected as possible ancestry informative single-nucleotide polymorphisms for further analyses.

Background: The first Atlantic cod (Gadus morhua) genome assembly published in 2011 was one of the early genome assemblies exclusively based on high-throughput 454 pyrosequencing. Since then, rapid advances in sequencing technologies have led to a multitude of assemblies generated for complex genomes, although many of these are of a fragmented nature with a significant fraction of bases in gaps. The development of long-read sequencing and improved software now enable the generation of more contiguous genome assemblies.Results: By combining data from Illumina, 454 and the longer PacBio sequencing technologies, as well as integrating the results of multiple assembly programs, we have created a substantially improved version of the Atlantic cod genome assembly. The sequence contiguity of this assembly is increased fifty-fold and the proportion of gap-bases has been reduced fifteen-fold. Compared to other vertebrates, the assembly contains an unusual high density of tandem repeats (TRs). Indeed, retrospective analyses reveal that gaps in the first genome assembly were largely associated with these TRs. We show that 21 % of the TRs across the assembly, 19 % in the promoter regions and 12 % in the coding sequences are heterozygous in the sequenced individual.Conclusions: The inclusion of PacBio reads combined with the use of multiple assembly programs drastically improved the Atlantic cod genome assembly by successfully resolving long TRs. The high frequency of heterozygous TRs within or in the vicinity of genes in the genome indicate a considerable standing genomic variation in Atlantic cod populations, which is likely of evolutionary importance.

Insertion-deletion polymorphisms (INDELs) are diallelic markers derived from a single mutation event. Their low mutation frequency makes them suitable for forensic and parentage testing. The examination of INDELs thus combines advantages of both short tandem repeats (STR) and single nucleotide polymorphisms (SNP). This type of polymorphisms may be examined using as small amplicon size as SNP (about 100 bp) but could be analyzed by techniques used for routine STR analysis. For our population study, we genotyped 55 unrelated Czech individuals. We also genotyped 11 trios to analyze DIPplex Kit (QIAGEN, Germany) suitability for parentage testing. DIPplex Kit contains 30 diallelic autosomal markers. INDELs in DIPplex Kit were tested with linkage disequilibrium test, which showed that they could be treated as independent markers. All 30 loci fulfill Hardy–Weinberg equilibrium. There were several significant differences between Czech and African populations, but no significant ones within European population. Probability of a match in the Czech population was 1 in 6.8 × 1012; combined power of discrimination was 99.9999999999%. Average paternity index was 1.13–1.77 for each locus; combined paternity index reached about 27,000 for a set of 30 loci. We can conclude that DIPplex kit is useful as an additional panel of markers in paternity cases when mutations in STR polymorphisms are present. For application on degraded or inhibited samples, further optimization of buffer and primer concentrations is needed. Electronic supplementary material The online version of this article (doi:10.1007/s00414-011-0649-3) contains supplementary material, which is available to authorized users.

Fragrance development in rice has been reported due to a 8-bp deletion in the exon 7 of badh2 gene located on Chromosome 8S. Multiplex markers targeting the functional InDel polymorphism was earlier reported for genotyping fragrance trait, but the marker was observed to be inconsistent and difficult to use. We have developed a simple, co-dominant, functional marker for fragrance trait, which can be resolved in an agarose gel and validated in Basmati and non-Basmati aromatic rice varieties and in a mapping population segregated for fragrance trait. The marker targets the InDel polymorphism in badh2 gene and amplifies 95 and 103 bp fragments in fragrant and non-fragrant genotypes, respectively. The newly developed marker was highly efficient in discriminating all fragrant and non-fragrant genotypes and showed perfect co-segregation with the trait of fragrance in the mapping population. We recommend the use of this simple, low-cost marker in routine genotyping for fragrance trait in large scale breeding materials and germplasm.

Kappa-casein (CSN3) plays an important role in stabilising the Ca-sensitive caseins in the micelle. The European rabbit (Oryctolagus cuniculus) CSN3 has previously been shown to possess two alleles (A and B), which differ deeply in their intronic regions (indels of 100 and 1550 nucleotides in introns 1 and 4, respectively). Furthermore, a correlation between several reproductive performance traits and the different alleles was described. However, all these data were exclusively collected in rabbit domestic breeds, preventing a deeper understanding of the extensive polymorphism observed in the CSN3 gene. Additionally, the techniques available for the typing of both indel polymorphisms were until now not suitable for large-scale studies. In this report, we describe a simple, PCR-based typing method to distinguish rabbit CSN3 alleles. We analyse both ancient wild rabbit populations from the Iberian Peninsula and France, and the more recently derived English wild rabbits and domestic stocks. A new allele (C) showing another major indel (250 bp) in intron 1 was found, but exclusively detected in Iberian wild rabbits. In addition, our survey revealed the occurrence of new haplotypes in wild populations, suggesting that intragenic recombination is important in creating genetic diversity at this locus. This easy and low cost single-step PCR-based method results in an improvement over previous described techniques, can be easily set up in a routine molecular laboratory and would probably be a valuable tool in the management of rabbit domestic breeds.

Aim Increasingly, laboratories that support hematopoietic cell transplantation programs are implementing NGS technology for high resolution HLA genotyping. Extension of NGS to other laboratory services can provide efficiency in staffing and equipment usage. We have evaluated NGS of SNP and InDel polymorphisms for engraftment monitoring. Beyond workplace efficiencies, NGS of InDel polymorphism is not subject to stutter artifacts that can compromise results from the STR technology currently in wide use for chimerism analysis. Methods A panel of 49 polymorphisms on 20 chromosomes, comprising 37 SNPs on 18 chromosomes and 12 InDels on 10 chromosomes, was assembled. Initial amplification for the panel was reduced to 2 multiplexed PCRs with 5 ng of sample DNA per reaction. Total time for library preparation is 6 h, followed by a 7 h sequencing run on the MiSeq platform, with 1 h for chimerism analysis. Hands-on technologist time consists of just 3 of the 14 h time frame. Preliminary evaluation involved 4 sets of artificial mixtures of DNA from 2 unrelated individuals, with mixtures ranging from 10% to 0.1%, see Table. Results On average, 30 informative markers were identified between unrelated individuals. NGS achieved 0.5% sensitivity in all 4 sets of mixtures. The table shows the experimental values and standard deviation, SD, compared with the expected ratios among informative the polymorphisms. Informative InDel polymorphisms showed no false positive artifacts in unmixed specimens. Conclusions The results show that NGS technology provides informative, accurate and sensitive detection of a minority species in mixed specimens. With the 6 h library preparation and 7 h sequencing run, NGS offers rapid turnaround for result reporting. Additional testing is underway to assess the NGS technology in low cell count specimens and in mixtures of 3 or more unrelated individuals, intended to simulate retransplant and double cord donor transplant. Download : Download high-res image (233KB) Download : Download full-size image

Background The uncoupling proteins (UCPs) in the mitochondrial inner membrane are members of the mitochondrial anion carrier protein family that play an important role in energy homeostasis. Genetic association studies have shown that human UCP2 and UCP3 variants (SNPs and indels) are associated with obesity, insulin resistance, type 2 diabetes mellitus, and metabolic syndrome. The aim of this study was to examine the genetic association between polymorphisms in UCP2 and UCP3 and metabolic data in dogs. Results We identified 10 SNPs (9 intronic and 1 exonic) and 4 indels (intronic) in UCP2, and 13 SNPs (11 intronic and 2 exonic) and one indel (exonic) in UCP3, by DNA sequence analysis of 11 different dog breeds (n = 119). An association study between these UCP2 and UCP3 variants and the biochemical parameters of glucose, total cholesterol, lactate dehydrogenase and triglyceride in Labrador Retrievers (n = 50) showed that none of the UCP2 polymorphisms were significantly associated with the levels of these parameters. However, four UCP3 SNPs (intron 1) were significantly associated with total cholesterol levels. In addition, the allele frequencies of two of the four SNPs associated with higher total cholesterol levels in a breed that is susceptible to hypercholesterolemia (Shetland Sheepdogs, n = 30), compared with the control breed (Shiba, n = 30). Conclusion The results obtained from a limited number of individuals suggest that the UCP3 gene in dogs may be associated with total cholesterol levels. The examination of larger sample sizes and further analysis will lead to increased precision of these results. Electronic supplementary material The online version of this article (doi:10.1186/1756-0500-7-904) contains supplementary material, which is available to authorized users.

Insertions and deletions (collectively indels) obviously have a major impact on genome evolution. However, before large-scale data on indel polymorphism became available, it was difficult to estimate the strength of selection acting on indel mutations. Here, we analyze indel polymorphism and divergence in different compartments of the Drosophila melanogaster genome: exons, introns of different lengths, and intergenic regions. Data on low-frequency polymorphisms indicate that 0.036-0.039 short (1-30 nt) insertion mutations and 0.085-0.092 short deletion mutations, with mean lengths 3.23 and 4.78, respectively, occur per single-nucleotide substitution. The excess of short deletion over short insertion mutations implies that indel mutations of these lengths should lead to a loss of approximately 0.30 nt per single-nucleotide replacement. However, polymorphism and divergence data show that this deletion bias is almost completely compensated by selection: Negative selection is stronger against deletions, whereas insertions are more likely to be favored by positive selection. Among the inframe low-frequency polymorphic mutations in exons, long introns, and intergenic regions, selection prevents a larger fraction of deletions (80-87%, depending on the type of the compartment) than of insertions (70-82%) or single-nucleotide substitutions (49-73%), from reaching high frequencies. The corresponding fractions were the lowest in short introns: 66%, 47%, and 15%, respectively, consistent with the weakest selective constraint in them. The McDonald-Kreitman test shows that 32-46% of the deletions and 60-73% of the insertions that were fixed in the recent evolution of D. melanogaster are adaptive, whereas this fraction is only 0-29% for single-nucleotide substitutions.

BACKGROUND angiotensin-converting enzyme (ACE) gene insertion/deletion (indel) polymorphism is considered a biomarker for Alzheimer's disease (AD). However, the associations of ACE gene and protein level to AD are undetermined among Taiwanese. METHODS this study investigated 257 Taiwanese cases with AD and 137 ethnically matched controls using ACE gene indel genotype association methods with logistic regression adjusted for other variables. Besides, 65 out of 257 AD patients, 11 with D/D genotype, 28 with I/I genotype and 26 with I/D genotype were recruited. Their plasma ACE protein levels were measured by enzyme-linked immuno-sorbent assay and compared for their corresponding ACE gene indel polymorphism. RESULTS patients with ACE-I/I homozygote were less likely to be associated with AD, compared with both I/D and D/D (OR: 0.601; 95% CI: 0.372-0.969; P = 0.037), or only I/D genotype (OR: 0.584; 95% CI: 0.349-0.976; P = 0.040). There were significantly different plasma ACE protein levels among these three different genotype groups (P = 0.023). The I/I genotype group had significantly lower ACE plasma levels [114.79 ± 31.32 ng/ml (mean ± SD)], compared with D/D (164.07 ± 86.36 ng/ml; P = 0.010), but not I/D (141.45 ± 51.50 ng/ml; P = 0.064). CONCLUSION ACE-I/I homozygote corresponds to lower plasma ACE protein level and it is independently but less likely to be associated with AD. These findings signal the importance of ACE indel polymorphisms to their corresponding protein levels and to AD.

Internal transcribed spacer 1 and 2 (ITS1 and ITS2) sequences were analysed in Ensis razor shells (Mollusca: Bivalvia: Pharidae). We aimed to (1) test ITS1 and ITS2 as molecular markers at the population level in the successful alien E. directus (Conrad, 1843); (2) test these spacers at the species level in E. directus and three other Ensis species, E. siliqua (L., 1758), E. macha (Molina, 1782), and E. magnus (Schumacher, 1817); and (3) analyse the evolutionary processes that may be shaping Ensis ITS1 and ITS2 extant variation. In E. directus, despite the intragenomic divergence detected, ITS1 and ITS2 were informative in differentiating the geographic areas considered (Denmark and Canada) by means of both the insertion-deletion polymorphism and the nucleotide polymorphism. In this species, the 5.8S ribosomal gene (5.8S) showed scarce polymorphism. At the species level, maximum parsimony and maximum likelihood analyses revealed that ITS1 and ITS2 may be suitable to reconstruct Ensis phylogenetic relationships. Finally, the evolutionary models that best fit the long-term evolution of Ensis ITS1–5.8S–ITS2 are discussed. A mixed process of concerted evolution, birth-and-death evolution, and selection is chosen as an option that may reconcile the long-term evolution of Ensis ITS1–5.8S–ITS2 and 5S ribosomal DNA.

A new polymorphic INDEL was detected at the X-STR GATA172D05 flanking region, which corresponds to an 18-bp deletion, 141 bp upstream the TAGA repeat motif. This INDEL was found to be polymorphic in different population samples from Native Americans, Africans, and Europeans as well as in an admixed population from the Amazonia (Belem). Gene diversities varied between 37.5% in Native Americans and 49.9% in Africans. Comparison between human and chimpanzee sequences showed that the ancestral state corresponds to the presence of two copies of 18 bp, detected in both species; and the mutated allele has lost one of these two copies. The simultaneous analysis of the short tandem repeat (STR) and INDEL variation showed an association between the INDEL ancestral allele with the shorter STR alleles. High diversities were found in all population groups when combining the information provided by the INDEL and STR variation. Gene diversities varied between 76.7% in Native Americans and 80.6% in both Portugal and Belem.

Using denaturing high-performance liquid chromatography (DHPLC), we screened the insertion/deletion (indel) polymorphism in the internal transcribed spacer (ITS) sequences of 40 individuals from a natural population of Zhikong scallop (Chlamys farreri). Surprisingly, only 7.5% of individuals were homogeneous in ITS constitution, while the others (92.5%) were heterozygous. Based on different peak types in DHPLC analysis, seven individuals were randomly chosen to investigate indel polymorphism in the ITS sequences within individuals. Furthermore, indel polymorphism in the ITS sequences of single sperms was also investigated in more individuals belonging to different peak types. Based on these results, we concluded that rapid intrachromosomal recombination drove homogenization of rDNA arrays and interchromosomal recombination might contribute to form new variants, and that it may be less rare than previously thought although it was much less frequent than intrachromosomal recombination in the homogenization process. Further, we proposed an expanded model for concerted evolution of the rDNA family in a natural population of C. farreri. A pathway in the new model which homogenizes a variant unit, beginning with two-peak type individuals and ends with two-peak type individuals, is a larruping pathway in the natural population of C. farreri. As the highest proportion in natural populations, two-peak individuals with equal peak areas can be viewed as being in a steady and balanced state which is maintained by rapid intrachromosomal recombination.

Insertion/deletion (INDEL) polymorphisms in the 3′ flanking region of the X chromosomal STR DXS10146 were analysed in the following four racial populations: 151 Japanese males, 60 Indonesian males and 90 South African males (32 Caucasians and 58 Africans). A 17-bp INDEL polymorphism in the 3′ flanking region was observed in all populations. In the African population, 4-bp and 7-bp INDEL polymorphisms were newly found 13bp and 25bp downstream of the core repeat unit of DXS10146, respectively. No samples with two or three deletions at these INDELs were observed in this study. In these four populations, all deletion events at the INDEL regions were observed only in alleles with six repeat number polymorphisms in the variable (TTCC) repeat block of the DXS10146 core repeat unit.

*Institute of Animal Physiology and Genetics, Academy of Sciences of the Czech Republic, 277 21 Libechov, Czech Republic. Institute of Animal Husbandry and Breeding, Department of Animal Breeding and Biotechnology, University of Hohenheim, Garbenstrasse 17, D-70593 Stuttgart, Germany. Ghent University, Faculty of Veterinary Medicine, Department of Animal Nutrition, Genetics, Breeding and Ethology, Heidestraat 19, 9820 Merelbeke, Belgium. DIPROVAL Sezione di Allevamenti Zootecnici, Faculty of Agriculture, University of Bologna, Via F.lli Rosselli 107, 42100 Reggio Emilia, Italy