Identification and characterization of gene mutations in an Iranian patient with Leber congenital amaurosis 9.

Key Clinical Message: The discovery of compound heterozygous mutations (c.245T>C; p.Val82Ala and c.

Usher Syndrome Type 2 in An Iranian Family: A Novel Founder Variation in The Gene.

This study delves into Usher syndrome type 2 (USH2), an uncommon genetic disorder characterized by sensorineural hearing loss (HL) and retinitis pigmentosa (RP), often associated with the gene. Focusing on an Iranian family exhibiting USH2 symptoms, exome-sequencing was employed for a comprehensive genome analysis in a 30-yearold patient. The investigation unveiled a novel variation (NM_206933.

A Novel Deleterious MYO15A Gene Mutation Causes Nonsyndromic Hearing Loss.

Introduction: Hearing loss (HL) is the most frequent sensory neurodeficiency, affecting a broad spectrum of individuals globally. Within this context, the role of genetic factors takes center stage, particularly in cases of hereditary HL.

Case Report: Here, we present a nonsyndromic HL (NSHL) case report.

Y-chromosome variation in Basrah population.

Y-chromosome DNA profiles are promising tools in population genetics and forensic science. Analysis of Y-chromosome variety was performed on a total of 191 unrelated males throughout different regions in Basrah. The Y-chromosome variety was explored utilizing 17 markers system.

Mitochondrial DNA (hypervariable region I) diversity in Basrah population - Iraq.

In attempt to investigate the origin of Basrah, we examined the mitochondrial DNA(mt-DNA) variations by hypervariable segment 1(HVS1) Sequencing and determination of specific site haplogroups. In Basrah, no significant differences diversity among Iraqis' HVS1 compared with other countries. The values were within the range of gene diversity across the Middle East and exhibited the unimodal pattern of differences in the pairwise sequence.

Hormone receptor-related gene polymorphisms and prostate cancer risk in North Indian population.

The purpose of this study was to analyse the frequency and type of mutations in the coding region of androgen receptor (AR) and to determine the role of polymorphisms in the intron 1 of ERalpha, exon 5 of ERbeta, intron 7 of progesterone, exon 7 of the aromatase (CYP19) and exon 9 of VDR genes in the risk of prostate cancer. PCR-RFLP analysis of all above the genes was on 100 prostate cancer patients and an equal number of matching controls. The study also included PCR-SSCP analyses of exons 2-8 of AR gene.

CYP17, SRD5A2, CYP1B1, and CYP2D6 gene polymorphisms with prostate cancer risk in North Indian population.

To investigate the involvement of the CYP17, SRD5A2, CYP1B1, and CYP2D6 variants with prostate cancer, a case-control study of 100 patients and an equal number of age-matched control men was conducted. There appears to be a nonsignificant increase with risk of prostate cancer for individuals carrying one copy of the CYP17 A2 allele (OR, 1.80; 95% CI, 0.