Informativeness of D9S1876 Marker Located within the TMC1 Gene in Iranian Population

TMC1 gene mutations are known as the most common causes of autosomal recessive non-syndromic hearing loss (ARNSHL) in different populations. According to large size of the TMC1 gene and the large number of identified mutations in this gene, application of polymorphic markers is suggested for carrier detection and prenatal diagnosis in families. In this study, informativeness of D9S1876 STR marker with CA repeat was evaluated in five various ethnic groups of the Iranian population including Fars, Azeri, Turkmen, Gilak and Arab. The D9S1876 locus located within the TMC1 gene region was genotyped by polymerase chain reaction (PCR) followed by polyacrylamide gel electrophoresis (PAGE) and fluorescent capillary electrophoresis. The genotyping data from 165 unrelated healthy individuals were analyzed by GeneMarker HID Human STR Identity software, GenePop program and Microsatellite Tools software. The obtained results via GenePop indicated the presence of 9 alleles of D9S1876 marker in Iranian population. The most frequent allele computed for 148bp with 34.85% frequency. The maximum heterozygosity observed in Arab people with 90.9%. The data of PIC value demonstrated that the D9S1876 marker was found highly informative in the population examined (PIC value above 0.7). D9S1876 can be suggested as a highly informative marker for possible carrier detection and prenatal diagnosis of TMC1 gene based ARNSHL by linkage analysis in Iranian population.