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非综合征性耳聋(nonsyndromichearingimpairment,NSHI)是一种十分常见的人类神经系统疾病,约有1/1000的新生儿患有语前聋。GJB2基因编码间隙连接蛋白Cx26,是最常见的NSHI致病基因,大约50%的常染色体隐性遗传NSHI是由GJB2基因突变引起的。在本研究中,收集了江苏省一个复杂的非综合征性耳聋家系,并对其进行了分子遗传学研究。对所有已知常染色体隐性遗传的NSHI致病基因,选用其侧翼的微卫星标记进行连锁分析,发现该家系的致病基因与D13S175连锁。对GJB2基因进行整个编码区域的测序,发现235碱基处发生了碱基C的纯合缺失,这一突变可能是该家系中绝大多数患者致病的遗传基础。
Nonsyndromic helaring impairment (NSHI) is a very common disease of the human nervous system and about 1 in 1,000 newborns have prelingual deafness. The GJB2 gene encodes the connexin Cx26, the most common NSHI pathogenicity gene, and approximately 50% of the autosomal recessive NSHI is caused by mutations in the GJB2 gene. In this study, we collected a complex family of non-syndromic deafness in Jiangsu Province and conducted a molecular genetic study. All of the known an autosomal recessive NSHI pathogenicity genes, using its flanking microsatellite markers for linkage analysis found that the pedigree’s disease-causing genes and D13S175 chain. Sequencing of the entire coding region of the GJB2 gene revealed a homozygous deletion of base C at position 235, which may be the genetic basis of disease in the vast majority of patients in this pedigree.