遗传性耳聋基因诊断技术的建立和初步临床应用

目的 :建立一种能实用于临床应用的检测技术 ,以解决遗传性耳聋基因诊断这一难题。方法 :首先依照临床表现对遗传性耳聋病人进行分类 ,然后确定与各类遗传性耳聋可能相关的致病基因 ,再根据这些基因的突变频率确定检测顺序 ,针对不同的基因结构采用不同的突变检测方法 ;最后对有突变家系的其他成员进行突变检测以最后确立诊断。结果 :通过对 4 0个常染色体隐性非综合征型耳聋家系、2 4个常染色体显性非综合征型耳聋家系进行检测 ,我们发现了CX2 6基因的 2种致病性突变和 6种多态、POU4F3基因的一种同义突变、CX31基因的三种多态。结论 :本诊断技术体系对于遗传性耳聋的基因诊断是一种较为有效的方法 ,具有一定的实用价值。

ESTABLISHMENT AND INITIAL CLINIC APPLICATION OF DIAGNOSIS TECHNIQUES OF GENES OF HEREDITARY HEARING LOSS

Objective:To establish an applied diagnosis technique for clinic use in order to resolve the problem of gene diagnosis of hereditary heating loss.Method:The patients with hearing loss were classified by their clinic symptom at first, then according to the mutation frequency of the nosogenic gene of corresponding hearing loss arranged the sequence for examine,different gene with different examine technique, at last, we will examine the other members in the pedigree to establish the finally diagnosis. Results:In the examination of 40 pedigrees of autosomal recessive disorders and 24 pedigrees of autosomal dominant disorders, we have discovered two nosogentic mutations and six polymorphisms of gene CX26, a synonymous mutation of gene POU4F3, three polymorphisms of gene CX31. Conclusion:The system of genetic diagnosis is a relatively effective technique for hereditary hearing loss, it is worth while to popularize this technique of gene diagnosis of hereditary hearing loss.