connexin 26基因突变与国人遗传性无综合征耳聋相关性分析

目的分析国人遗传性无综合征耳聋与缝隙连接蛋白26（connexin26，Cx 26）基因突变相关性，从分子水平探讨该病的发病机理。方法收集国人35个无综合征耳聋家系中138名成员，99例散发的无综合征耳聋患者以及100份健康对照个体的外周血DNA样本共337份；采用聚合酶链反应-单链构像多态性（polymerasechain reaction-single stand conformational

Study on mutations in the connexin 26 gene among Chinese with nonsyndromic hearing loss

Objective To study the relation between nonsyndromic hearing loss in Chinese and mutations in connexin 26 (Cx 26) gene and to explore the pathogenic mechanism. Methods One hundred and thirty eight individuals from thirty five pedigrees with nonsyndromic hearing loss, 99 children with sporadic nonsyndromic hearing loss and 100 normal adults as control were collected in present studies. The Cx 26 coding sequence was screened by single strand conformational polymorphism (SSCP) and analyzed by direct sequencing when SSCP shifts were observed. Results Five SSCP shifts in 2 pedigrees were observed. Homozygous deletion C at position 233 235 of Cx 26 cDNA, which resulted in frameshift mutation, was found in 2 pedigrees with nonsyndromic hearing loss. Conclusion The hot spot mutations of Cx 26 gene in Chinese with nonsyndromic hearing loss may be different from other ethnic groups. The 233 235 delC homozygous mutation of Cx 26 cDNA can result in autosomal recessive nonsyndromic hearing loss in Chinese population.