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目的:对非综合征型耳聋家系进行CX26基因的突变检测,对检测出CX26基因突变的家系进行产前诊断并实施早期干预。方法:对来自国内十多个省份的100个非综合征型耳聋家系中的先证者通过聚合酶链反应、单链构像多态性分析以及直接测序法进行CX26基因的突变检测,对确诊为CX26基因所致的遗传性耳聋家系中的一成员在妊娠时通过脐静脉穿刺术抽取脐胎血进行产前诊断及早期干预。结果:①发现CX26基因的致病性突变1种:cDNA编码区233~235位点C的纯合缺失;多态6种:G79A、G109A、A341G、G442A、G506A和T608C;②对一个确诊为CX26基因233~235delC的遗传性聋家系的成员于第2次妊娠时进行产前诊断,发现胎儿具有同种致病性突变。结论:①CX26基因cDNA编码区233~235位点C的杂合缺失不致聋,纯合缺失可导致非综合征型常染色体隐性遗传性聋;②产前诊断和早期干预可预防遗传性聋。这是我国首次确诊携带耳聋致病基因的胎儿并实施早期干预。
OBJECTIVE: To detect the mutation of CX26 gene in non-syndromic deafness pedigrees and conduct prenatal diagnosis and early intervention in pedigrees with CX26 gene mutation detected. Methods: The probands of 100 non-syndromic deaf families from more than 10 provinces in China were detected by polymerase chain reaction, single strand conformation polymorphism analysis and direct sequencing to detect the mutation of CX26 gene. A member of the hereditary deafness pedigree caused by the CX26 gene prenatal diagnosis and early intervention by umbilical vein puncture of umbilical cord blood during pregnancy. Results: ① One of the pathogenic mutations of CX26 gene was found: homozygous deletion of C at 233 ~ 235 in cDNA coding region; 6 polymorphisms: G79A, G109A, A341G, G442A, G506A and T608C; Members of the hereditary deaf pedigree of the CX26 gene 233-235delC had prenatal diagnosis at the second gestation and found that the fetus had the same pathogenic mutation. Conclusion: ①CZ26 gene cDNA coding region 233 ~ 235 C heterozygous deletion is not deaf, homozygous deletion can lead to nonsyndromic autosomal recessive deafness; ② prenatal diagnosis and early intervention can prevent genetic deafness. This is the first time that our country has confirmed the fetus carrying the gene that causes deafness and implemented the early intervention.