Iranian Azeri's Y-chromosomal diversity in the context of turkish-speaking populations of the Middle East

The main goal of this study was to conduct a comparative population genetic study of Turkish speaking Iranian Azeries as being the biggest ethno-linguistic community, based on the polymorph markers on Y chromosome. One hundred Turkish-speaking Azeri males from north-west Iran [Tabriz, 2008-2009] were selected based on living 3 generations paternally in the same region and not having any relationship with each other. Samples were collected by mouth swabs, DNA extracted and multiplex PCR done, then 12 Single Nucleotide Polymorphisms [SNPs] and 6 Microsatellites [MS] were sequenced. Obtained data were statistically analyzed by Arlequin software. SNPs and Microsatellites typing were compared with neighboring Turkish-speaking populations [from Turkey and Azerbaijan] and Turkmens representing a possible source group who imposed the Turkish language during 11-15[th] centuries AD. Azeris demonstrated high level of gene diversity compatible with patterns registered in the neighboring Turkish-speaking populations, whereas the Turkmens displayed significantly lower level of genetic variation. This rate of genetic affiliation depends primarily on the geographic proximity. The imposition of Turkish language to this region was realized predominantly by the process of elite dominance, i.e. by the limited number of invaders who left only weak patrilineal genetic trace in modern populations of the region

Molecular characterization of cyclophilin protein gene in skin normal microflora: malassezia furfur

Malassezia are dimorphic, lipid-dependent yeasts, which are responsible for causing several cutaneous and systemic conditions. Although cyclophilins [CyPs] are highly conserved cytosolic proteins that catalyze the peptidyl-prolyl cis-trans isomerazation reaction before protein folding process, it has been suggestive of an allergen in a few numbers of fungi such as Aspergillus fumigatus and Malassezia species. Allergenic cyclophilins are IgE-binding components, which have been characterized in other species of Malassezia; and are considered as Mala s 6 in Malassezia sympodialis. In the present study we tried to identify the molecular characterization of cyclophilin gene in M. furfur. Pairs of oligonucleotide primers were designed from highly conserved regions of the gene counterparts in other fungi. The primers were then applied to amplify the primer-specific DNA fragment. Afterward, PCR product fragments were sequenced to be used in further analysis. About 573 nucleotides, encoding a polypeptide of 190 amino acids, have been sequenced. Sequence comparison was performed in Gene Bank, both for the nucleotides and their deduced amino acid sequence. It revealed a significant homology with cyclophilin genes and proteins of other eukaryotic cells. The amino acid sequence of the encoded protein was about 86% identical to the sequence of cyclophilin protein from other fungi. The molecular characterization of cyclophilin gene may open the way to disclosure of the functional characteristics of cyclophilin and is a fundamental step for understanding the molecular basis of its pathogenesis in AEDS disease

Autosomal recessive and sporadic non syndromic hearing loss and the incidence of Cx26 mutations in a Province of Iran

Despite the enormous heterogeneity of genetic hearing loss, mutations in the GJB2 [connexin 26] gene located on 'DFNB1' locus [13q12] account for up to 50% of cases of autosomal recessive non-syndromic hearing loss [ARNSHL] in some populations. This study describes the analysis of 100 autosomal recessive and sporadic nonsyndromic hearing loss individuals from 79 families each having at least one deaf child in Chehar Mahal va Bakhtiari province in west of Iran. We have investigated the prevalence of the connexin 26 gene mutations using nested PCR strategy to screen the predominant 35delG mutation and subsequent direct sequencing to detect other Cx26 mutations. Seven different genetic variants were detected from which one novel variant was including 363delC. The 35delG was the most common mutation found in 5 of 79 families [6.3%]. Cx26 related deafness mutations [35delG, [V27I; E114G]] and R127H] were found in 12 of 158 chromosomes studied [7.8%]. We conclude that the association of Cx26 mutations with deafness in Chehar Mahal va Bakhtiari province is low and looks like most other populations of Iran

Molecular detection of prostate specific antigen in patients with prostate cancer or benign prostae hyperplasia the first investigation from Iran

Prostate cancer is the second common form of cancer in men. Detection of circulating Prostate Specific Antigen [PSA] transcripts has effectively been used for early diagnosis of prostate cancer cells. This investigation employed a reverse transcriptase polymerase chain reaction [RT-PCR] technique to distinguish the patients with either localized or metastatic prostate cancer [CaP] vs. Benign Prostate Hyperplasia [BPH] and control subjects, as compared with clinical and pathological records. With reservation of ethical issues, blood samples were collected from 60 cases. Based on pathological and clinical findings, 25 patients [20 with localized cancer, 5 with metastatic], 22 with BPH, and 13 healthy [including 3 females] subjects as negative controls, were selected from Shariati, Mehrad, Sina,, Khatam and Atie Hospitals in Tehran, Iran. RT-PCR for a 260 bp PSA transcript was then performed. Clinical and pathological records were used for the assessment and comparison of PSA RT-PCR results. None of the control subjects and BPH [with 7 exceptions] were found positive by RT-PCR [Relative specificity= 72.7%]. In patients with prostate cancer, 21 out of 25 were found PSA positive [Relative sensitivity=83.4%] and the remaining 3 have been shown to be PSA negative [Positive predictive value= 83.4%]. All of 5 metastatic patients [100%] revealed PSA positive results. Our data reflects the clinical relevance and significance of RT-PCR results as assessed with clinical and pathological examinations. PSA RT-PCR might be used as a powerful means for diagnosis, even when either pathological or clinical findings are negative, and could be employed for further molecular epidemiology surveys

Molecular investigation of Leber's hereditary optic neuropathy common mutation in suspected patients

LHON is a mitochondrial neurodegenerative disorder often manifesting itself in the second or third decade of life, and hence resulting in progressive central vision loss sually in a short period of 2-8 weeks within which different degrees of blindness may occur. Etiologically, more than twenty missense mutations have been reported for LHON, amongst which the three mutations of G11778A, G3460A and T14484C, affecting NADH dehydrogenase complex activity, are recognized as primary mutations. The three primary mutations account for 90% of LHON patients, emphasizing the importance of molecular investigation of these mutations for differential diagnosis of LHON. Using PCR-RFLP, this research resulted in the detection of two LHON families carrying the G11778A mutation in homoplasmy and described the clinical and molecular features of the disease in the patients