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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。
Objective: To establish a practical detection technology for clinical applications to solve the genetic diagnosis of genetic deafness this problem. Methods: The patients with hereditary deafness were classified according to the clinical manifestations, and then the pathogenic genes that may be related to all kinds of hereditary deafness were identified. Then the detection sequence was determined according to the mutation frequency of these genes. Different mutations were detected according to different gene structures Methods; Finally, mutations in other members of the mutated pedigree were tested for the final diagnosis. Results: By detecting 40 autosomal recessive non-syndromic hearing loss pedigrees and 24 autosomal dominant non-syndromic hearing loss pedigrees, we found two pathogenic mutations of CX2 6 gene and 6 Polymorphism, a synonymous mutation of the POU4F3 gene, and three polymorphisms of the CX31 gene. Conclusion: The diagnostic technique system is a more effective method for gene diagnosis of hereditary deafness, and has certain practical value.