Molecular genetic analysis of the variable number of tandem-repeat alleles at the phenylalanine hydroxylase gene in Iranian Azeri Turkish population

The variable numbers of tandem-repeat [VNTR] alleles at the phenylalanine hydroxylase [PAH] gene have been used in carrier detection and prenatal diagnosis in phenylketonuria families. This study was carried out to analyze VNTR alleles at the PAH gene in Iranian Azeri Turkish population. In this study, 200 alleles from general population were studied by PCR. The frequencies of VNTR alleles were 45%, 46%, 2%, 3%, 1%, and 3% in studied group regarding 3, 8, 9, 11, 12, and 13 repeat copies, respectively. Statistically significant differences were not found between expected and observed frequencies of VNTR genotypes [P > 0.05]. VNTR alleles with three and eight repeats were frequent, and the VNTR alleles with 13 repeats showed 3% frequency in the tested group. This study is the first report on tested population genetic structure using VNTR alleles at the PAH gene

An association study between INSR/Nsii [rs2059806] and INSR/Pmll [rs1799817] SNPs in women with polycystic ovary syndrome from west azerbaijan province, Iran

It has been demonstrated that insulin signaling pathway related genes have important roles in poly cystic ovary syndrome [PCOS] risk. The goal of present investigation was to assess the potential association between INSR/Nsil[rs2059806] and INSR/Pmll [rs1799817] SNPs and PCOS. 50 women with PCOS and 47 normal controls entered the study. Nsil and Pmll SNPs in the INSR gene were determined by RFLP-PCR. INSR/Nsii [rs2059806] SNP GG, GA, AA, G and A genotypic and allelic frequencies were 45[90%], 5[10%], 0[0%], 95[95%] and 5[5%] in cases and 41 [87.2%], 6[12.8%], 0[0%], 88[93.6%] and 6[6.38%] in controls, respectively. INSR/ Pmll [rs 1799817] SNPs resulted in three genotypes of CC, CT, and TT with C and T alleles. The frequencies of Pmll [rs 1799817] SNPs in the INSR gene were 37[37%] and 63[63%] in cases, also 39[41.49%] and 55 [58.51%] in controls regarding T and C alleles. The frequencies of Pmll [rs 1799817] SNPs in the INSR gene were 4[8%], 29[58%], and 17[34%] in cases, also 5[10.64%], 29[61.7%], and 13[27.66%] in controls regarding TT, TC, and CC genotypes, respectively. The present study as the first investigation of its own kind in Iranian Azeri Turkish women, reported no association between Nsil [rs2059806] and Pmll [rs 1799817] SNPs in the INSR gene and PCOS risk