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

Vitamin D receptor Taqi gene variant in exon 9 and polycystic ovary syndrome risk

Polycystic ovary syndrome [PCOS] is known as a metabolic disorder. The results of recent studies implied that vitamin D receptor [VDR] genetic variants may impact PCOS and insulin resistance in women with PCOS. The aim of the present study was to determine the VDR TaqI gene variant in exon 9 [T/C] [rs731236] in normal controls and patients with PCOS for the first time in Iranian Azeri women. In this case control study between April 2011 and June 2012, a total of 76 women aged 18-40 years [38 patients with PCOS and 38 healthy women as normal controls] participated. Genotypes of VDR TaqI in exon 9 [T/C] [rs731236] were determined using the PCR-RFLP method. The frequencies of VDR TaqI T anc C alleles were 0.605 and 0.395 in cases and 0.697 and 0.303 in controls. Also, the genotypic frequencies of VDR TaqI were 16] [42.11], 14[36.84], and 8[21.05] in cases, and 17[44.74], 19[50], and 2[5.26] in controls for TT, TC and CC genotypes respectively. There was no difference in genotype and allele frequencies between PCOS and controls [p value>0.05] with the exception of the CC genotype [p value=0.04]. This report, a first of its own kind in Iranian Azeri patients, suggests that the CC genotype of VDR TaqI in exon 9 [rs731236] is associated with PCOS

Detection of neuraminidase activity in pseudomonas aeruginosa PAO1

Some properties of neuraminidase produced by Pseudomonas aeruginosa PAO1 growth in a defined medium [BHI] were examined and evaluated for its features. The obtained supernatant enzyme of P. aeruginosa PAO1 cultures was used in a sensitive fluorometric assay by using 2'-[4-methylumbelliferyl] alpha-D-N acetylneuraminic acid as substrate.As hydrolyzing MUN with neuraminidase; free N-acetylneuraminic acid and 4-methylumbelliferone were formed with a shift in the fluorescence spectra from 315/374 nm [substrate] to 365/450 nm [product]. Enzyme activity was then measured by the fluorescence of 4-methylumbelliferone at 450 nm. Among the culture media to determine the enzyme production, the highest production of P. aeruginosa PAO1 neuraminidase was found in BHI culture media. Neuraminidase production in P. aeruginosa PAO1 paralleled bacterial growth in defined medium [BHI] and was maximal in the late logarithmic phase of growth but decreased during the stationary phase, probably due to protease production or thermal instability. The neuraminidase of P. aeruginosa PAO1 possessed an optimum temperature of 56 °C and the activity was pH-dependent with maximal activity at pH 5. Heating the enzyme at 56 °C for 45 min in the presence of bovine serum albumin destroyed 33.1% of the activity while the addition of Ca[+2], EDTA and N-acetyl neuraminic acid [NANA] decreased activity markedly. Overall, the results indicated that neuraminidase of P. aeruginosa PAO1 is more an extracellular enzyme than K. pneumonia neuraminidase is