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

Angiotensin-converting enzyme insertion/deletion gene polymorphism in general population of west Azarbaijan, Iran

Angiotensin-converting enzyme [ACE] gene polymorphisms have been studied in different ethnic populations. We assessed the ACE gene insertion/deletion alleles frequencies and genotype distributions in a group of individuals from among the general population of west Azarbaijan, Iran, in order to determine the prevalence of deletion/deletion [D/D], deletion/insertion [D/I] and insertion/insertion [I/I] genotypes. In a cross-sectional study, 167 healthy individuals were enrolled in a randomized fashion. They were selected from the general population of west Azerbaijan, Iran. Polymerase chain reaction was carried out to determine the ACE D/D, D/I and I/I genotypes. The ACE alleles were D and I in 59.7% and 40.3% of the women, 59.3% and 40.7% of the men and 59.6% and 40.4% of all of the participants, respectively. The D/D, D/I, and I/I genotypes were observed in 22 [40.7%], 20 [37%], and 12 [22.2%] men, 41 [36.3%], 53 [46.9%], and 19 [16.8%] women, and 63 [37.7%], 73 [43.7%], and 31 [18.6%] participants, respectively. Statistical analysis showed that differences in ACE D and I alleles and genotype frequencies were not significant between the men and the women. In this study on the general population of west Azarbaijan, the frequencies of the ACE D and I alleles were 59.6% and 40.4%. The ACE D/D, D/I and I/I genotypes were seen in 37.7%, 43.7%, and 18.6% of the studied population, respectively

IFN-gamma +874 and IL-4 -590 polymorphisms and asthma susceptibility in North West of Iran

Recent studies have documented an association between some cytokines' gene polymorphisms and chronic inflammation of the respiratory tract which leads to asthma susceptibility. This study was conducted to investigate if there were any differences in IFN-gamma +874 [A/T] and IL-4 -590 [C/T] single nucleotide variations in asthmatic patients compared to normal controls among West Azerbaijani population. IFN-gamma +874 [A/T] and IL-4 -590 [C/T] polymorphisms were amplified by ASO-PCR and RFLP-PCR from genomic DNA of 173 individuals including 64 asthmatic patients and 109 control subjects from West Azerbaijani population. The allele or genotype frequencies of IFN-gamma+874 A/T in patients were not different from those of controls [p>0.05]. The differences between allelic or genotypic frequencies of IL-4 -590 C/T in patients and controls were not statistically significant [p>0.05]. These findings showed that IL-4 -590 [C/T] and IFN-gamma+874 [A/T] polymorphisms were not associated with asthma susceptibility

Volar approach to extirpate subungual glomus tumor: report of two cases

Glomus tumor is a rare vascular tumor with a predominant subungual location in the hand. Different dorsal transungual surgical approaches have been described for excision of glomus tumor. In this report, the volar approach has been used for extirpation of subungual glomus tumor with osseous erosion and perforated distal phalanx in two patients. When feasible, by applying volar approach, the risk of nail deformity, which is a major concern after the tumor excision, can be eliminated