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Introduction: Identifying obesity risk factors as a health problem facing communities is crucial given its complexity. The vitamin D receptor gene has been reported as a possible cause of this disease. Objective: To study the association of the VDR gene ApaI, BsmI, and TaqI polymorphisms with obesity in an Iranian population. Material and methods: We analyzed the genotypes of 348 obese (BMI≥30 kg/m2) and 320 non-obese people (BMI: 18.5-24.9 kg/m2) using PCR-RFLP. We measured FBS, TG, total cholesterol, and HDL and LDL cholesterol levels in an automatic biochemical analyzer. Results: We found significantly higher BMI, FBS, and TG levels in the obese group compared to the control. In the obese individuals, the frequency of genotype AA was 47.1% and that of the combined Aa+aa genotype, 52.9% while in the control group they were 30% and 70%, respectively (p=0.024, 95% confidence interval (CI)=1.100-3.933, odds ratio (OR)=2.08). A and a alleles frequencies for the ApaI polymorphism were statistically significant in the two groups (allele A vs. a; p=0.017). No significant relationship was observed between TaqI genotypes and alleles in the control and obese subjects. Conclusion: We found that VDR ApaI (rs7975232 C/A) polymorphism appeared to be a risk factor for obesity. Especially, the A allele and the AA genotype in ApaI were associated with the obesity phenotypes. Resumen: Introducción. La determinación de los factores de riesgo de la obesidad en la población iraní como problema de salud de la comunidad es crucial dada su complejidad. El gen receptor de la vitamina D (VDR) se ha mencionado como posible causante de dicha enfermedad. Objetivo. El objetivo del estudio fue investigar la asociación de los polimorfismos Apal, Bsml y Taql, con el gen VDR y la obesidad en una población iraní. Materiales y métodos. Se analizaron genotipos de 348 individuos obesos (BMI>30 kg/m2) y 320 no obesos (BMI: 18,5-24,9 kg/mf) mediante reacción en cadena de la polimerasa y polimorfismos de longitud de fragmentos de restricción (PCR-RFLP). Para medir los niveles de glucemia en ayunas, tiroglobulina (TG), colesterol total, colesterol HDL y colesterol LDL, se utilizó un analizador bioquímico automático. Resultados. Los índices de masa corporal, glucemia en ayunas y TG fueron significantemente más elevados en el grupo de los obesos que en el de control. En los individuos obesos, la incidencia del genotipo AA fue de 47,1 % y la del genotipo combinado Aa+aaa fue de 52,9 %, en tanto que en el grupo de control estas cifras fueron, respectivamente, de 30 y 70 % (p=0,024; IC95% 1,100-3,933; la razón de probabilidades (OR) fue de 2,08. La frecuencia de los alelos “A” y “a” para el polimorfismo Apal en ambos grupos fue estadísticamente significativa (alelo A Vs. A; p=0,017). No se observó ninguna relación significativa entre los genotipos Taql y los alelos en los sujetos obesos y, tampoco, en los controles. Conclusión. El polimorfismo Apal del gen VDR (rs 7975232C/A) sería un factor de riesgo para la obesidad. El alelo y el genotipo AA en dicho polimorfismo se asociaron con los fenotipos de obesidad.

As obesity is a multifactorial characteristic, identifying genetic risk factors can help to prevent obesity prevalence. In 2007, FTO (fat mass and obesity associated) gene was identified according to genome-wide association study. Several studies revealed that FTO polymorphisms are responsible for the risk of obesity. The primary objective of our study was assessment of FTO rs9939609 and rs9926289 polymorphisms as risk factors of obesity in part of the Iranian population. In our case–control study, 62 patients with obesity and 75 controls were selected according to their BMI (obese: BMI ≥ 30 kg/m2 and control: BMI: 18.5-24.9 kg/m2). Blood samples were collected from individuals for biochemical parameters assessment and genotyping analysis. After genotyping by high resolution melting (HRM) technique, the odds ratio was used to examine the relationship between the risk factors and the disease; 95% of confidence interval was used for these calculations. The difference in the age, FBS, triglycerides, total cholesterol, and BMI between individuals with obesity and the control group was significant. The analysis of rs9939609 FTO gene showed significant association between the AA+TA genotype and TT according to the dominant model. No association was observed for genotypes of the FTO rs9926289 polymorphism. In addition, there was no significant correlation of biochemical parameters and dominant model genotypes of rs9939609 polymorphisms. Our study suggests that FTO rs9939609 polymorphisms appear to be associated with obesity in part of the Iranian population. AA+TA genotype of rs9939609 polymorphism is a risk factor of obesity. However, further examination should be carried out on large populations.

This study was carried out to screen the GDF9 gene and evaluate the polymorphism effect on litter size of four Iranian sheep breeds using the PCR-RFLP and PCR-SSCP methods. First, sequencing of the GDF9 gene in 16 twin-birth, 4 triplet-birth, and 2 infertile ewes showed that, in addition to G2, G3, G4, G5, and G6 mutations that have been previously reported in other breeds, a new G0 mutation, called C25T, exists in the GDF9 sequence of 1 out of 22 ewes and causes L9F substitution in the signal peptide region. None of the triplet-birth or infertile ewes carried G1, G4, G7, FecGE, G8, or FecGT mutations. In the second experiment, a large dataset was used: 605 individuals including 496 ewes (145 Afshari, 54 Shal, 126 Ghezel, and 171 Lori-Bakhtyari sheep), and 109 rams (26 Afshari, 23 Shal, 10 Ghezel, and 50 Lori-Bakhtyari sheep. There were no sheep carrying the G7, G8, or Thoka mutations. Among all 109 rams that were used in this study, none of them were homozygous for the G1 mutation. Moreover, abundance of heterozygote rams (G1/G+) varied from 0.0 (Afshari) to 28.6 % (Lori-Bakhtyari and Ghezel). The highest and the lowest frequencies of the G4 mutation were 30.6 and 3.0 % in Shal and Afshari breeds, respectively. Moreover, G4 abundance varied from 0.0 to 42.3 %, from 3.0 to 26.9, and from 3.0 to 30.6 % in rams, ewes, and overall, respectively. There was a significant difference in the abundance of G1 and G4 mutations between breeds. However, neither the G1 nor the G4 mutation was associated with litter size in Afshari, Ghezel, Lori-Bakhtyari, or Shal sheep breeds. In conclusion, the results of this study showed that GDF9 G1 and G4 mutations are not the reason for higher litter size in Iranian sheep. Moreover, the GDF9 G0 and G6 mutations do not cause triplet births or infertility in Iranian ewes. Therefore, it is unlikely that variant GDF9 mRNA induces larger litter size or infertility in Iranian ewes.

Gorgan (Iran) have been studied for HLA-A, -B, -C, -DRB1 and -DQB1 genes for the first time. They are Turkmen and originated in East Asia around Altai Mts; they originally spoke a Turk language classified within the Turkish-Oguz group. Peripheral blood samples were collected from Gorgan City (Iran) and HLA typed by standard methodology. HLA allele frequencies were compared with 7984 chromosomes of other World populations and it was shown existence of admixture of Siberian and Mediterranean HLA characters in this population, probably due to longlasting contact with Persians. Three new HLA extended haplotypes were found: A*01:01-B*35:01-DRB1*03:01-DQB1*02:01, A*30:01-B*13:01-DRB1*15:01-DQB1*02:01 and A*31:01-B*35:01-DRB1*15:01-DQB1*03:01. Gorgan (Iran) were most close to Chuvashians (Noth Caspian Sea, Russia) and Siberians, like Tuvinians, Mansi and Buryats in Neighbour Joining and Vista analyses. It is established a relationship of this population with Kurgan (Gorgan, Iran) archaeological mounds culture. However, their kinship with Scythians (2nd century BC) and Sarmatians (4th century AD) is obscure although both of them spoke a Persian language.

HLA-A, -B, -C and -DRB1 alleles and haplotypes have been studied in a group of Aleuts from Bering Island (Commander Islands, Russia). Many of their ancestors were original from other Aleutian Islands, like Attu and Atka Islands (USA) and may have had a low degree of admixture with Russians. HLA haplotypes are found to be specific and quite different from other First North America Inhabitants (including Amerindians, Na-Dene and Eskimo), as it was previously shown in a less numerous Aleut population. HLA-A*24:02 is found in a very high frequency; this character is shared by Pacific and Amerindian populations. In conclusion, HLA, other genetic markers, anthropological and linguistic traits make Aleuts to be different from First America Inhabitants and closer to Europeans and Asians: specifically Aleut relatedness has been found with Scandinavian Saami (Lapps) and Finns and Baikal Lake area Buryats, where all of them may have initialing being originated.

DNA uptake in the post-acrosomal region of the spermatozoa takes place exclusively in immotile spermatozoa that are naturally unable to fertilize eggs. The present study aimed to assess whether passive transmission of non-viral vectors to the surrounding areas of chicken embryos could be an alternate mechanism in chicken sperm-mediated gene transfer. First, the presence of nucleases in rooster seminal plasma was evaluated. Semen ejaculates from five roosters were centrifuged and the supernatant was incubated with pBL2 for 1 h. A robust nuclease cocktail was detected in the rooster semen. To overcome these nucleases, plasmid-TransIT combinations were incubated with semen for 1 h. Incubation of exogenous DNA in the lipoplex structure could considerably bypass the semen nuclease effect. Then, intravaginal insemination of 1 × 10(9) sperm mixed with lipoplexes (40 µg pBL2:40 µl TransIT) was carried out in 15 virgin hens. Neither the epithelial tissue from the inseminated female reproductive tracts nor the produced embryos following artificial insemination showed the transgene. To remove any bias in the transgene transmission possibility, the plasmid-TransIT admixture was directly injected in close vicinity of the embryos in newly laid eggs. Nonetheless, none of the produced fetuses or chicks carried the transgene. In conclusion, the results of the present study revealed a nuclease admixture in rooster seminal plasma, and passive/active transmission of the non-viral vector into close vicinity of the chicken embryo was inefficient for producing transgenic chicks.

This study was carried out to screen the GDF9 gene and evaluate the polymorphism effect on litter size of four Iranian sheep breeds using the PCR-RFLP and PCR-SSCP methods. First, sequencing of the GDF9 gene in 16 twin-birth, 4 triplet-birth, and 2 infertile ewes showed that, in addition to G2, G3, G4, G5, and G6 mutations that have been previously reported in other breeds, a new G0 mutation, called C25T, exists in the GDF9 sequence of 1 out of 22 ewes and causes L9F substitution in the signal peptide region. None of the triplet-birth or infertile ewes carried G1, G4, G7, FecGE, G8, or FecGT mutations. In the second experiment, a large dataset was used: 605 individuals including 496 ewes (145 Afshari, 54 Shal, 126 Ghezel, and 171 Lori-Bakhtyari sheep), and 109 rams (26 Afshari, 23 Shal, 10 Ghezel, and 50 Lori-Bakhtyari sheep. There were no sheep carrying the G7, G8, or Thoka mutations. Among all 109 rams that were used in this study, none of them were homozygous for the G1 mutation. Moreover, abundance of heterozygote rams (G1/G+) varied from 0.0 (Afshari) to 28.6 % (Lori-Bakhtyari and Ghezel). The highest and the lowest frequencies of the G4 mutation were 30.6 and 3.0 % in Shal and Afshari breeds, respectively. Moreover, G4 abundance varied from 0.0 to 42.3 %, from 3.0 to 26.9, and from 3.0 to 30.6 % in rams, ewes, and overall, respectively. There was a significant difference in the abundance of G1 and G4 mutations between breeds. However, neither the G1 nor the G4 mutation was associated with litter size in Afshari, Ghezel, Lori-Bakhtyari, or Shal sheep breeds. In conclusion, the results of this study showed that GDF9 G1 and G4 mutations are not the reason for higher litter size in Iranian sheep. Moreover, the GDF9 G0 and G6 mutations do not cause triplet births or infertility in Iranian ewes. Therefore, it is unlikely that variant GDF9 mRNA induces larger litter size or infertility in Iranian ewes.