Hearing loss is the most prevalent sensorineural disorder which can be caused by genetic factors in more than half of the cases. GJB2 mutations with the frequency of 18.7% are the most common cause of autosomal recessive non-syndromic hearing loss (ARNSHL) in the Iranian population. The aim of the current study was to genotype 100 healthy individuals for eight microsatellite markers flanking the GJB2 gene, and to study markers on ten blastomeres using semi-nested PCR and Whole-genome amplification (WGA). All microsatellite markers within 1 Mb flanking the GJB2 gene were identified. From the identified markers, four with potentially high heterozygosity values were selected. The heterozygosity indices of four newly discovered markers and four previously reported markers were calculated. The markers and the GJB2 gene were also validated on single lymphocytes and blastomeres. Totally, 77 alleles were observed in eight loci. D13S046 showed the highest polymorphism and D13S141 showed the lowest. The observed heterozygosities of all markers, except D13S141, were higher than 50%. All single cells were genotyped successfully by the two techniques. Our findings indicate a high degree of polymorphism of the selected markers. Due to the high rate of successful amplification of markers in all ten blastomeres and the low level of allelic drop out (ADO), a combination of these eight microsatellite markers in conjunction with direct mutation detection is suggested for performing preimplantation genetic diagnosis (PGD) of hearing loss due to GJB2 mutations.

听力损失是最普遍的感觉神经疾病，在一半以上的病例中可能是由遗传因素引起的。频率为18.7％的GJB2突变是伊朗人群中常染色体隐性非综合征性听力损失（ARNSHL）的最常见原因。本研究的目的是对100个健康个体的GJB2基因两侧的8个微卫星标记进行基因分型，并使用半巢式PCR和全基因组扩增（WGA）研究10个卵裂球上的标记。GJB2两侧1 Mb内的所有微卫星标记基因被鉴定。从识别的标记中，选择了四个具有潜在高杂合度值的标记。计算了四个新发现的标记和四个先前报道的标记的杂合度指数。标记物和GJB2该基因还在单个淋巴细胞和卵裂球上进行了验证。总共在八个基因座中观察到77个等位基因。D13S046显示最高的多态性，而D13S141显示最低的多态性。除D13S141外，所有标记的杂合度均高于50％。通过两种技术成功地对所有单个细胞进行了基因分型。我们的发现表明所选标记的高度多态性。由于在所有十个卵裂球中标记的成功扩增率很高，而等位基因缺失（ADO）的水平较低，因此建议将这八种微卫星标记与直接突变检测相结合，用于进行胚胎的植入前遗传学诊断（PGD）。GJB2突变引起的听力损失。