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目的利用JL055小家系分析GJB2基因突变导致非综合征性耳聋(non-syndromic hearing impairment,NSHI)的特点,为遗传咨询和产前诊断提供理论基础。方法对来自吉林聋哑学校的先证者JL055及其部分家属的血样,进行GJB2基因聚合酶链反应(polymerase chain reaction,PCR)扩增产物测序,检测GJB2基因的序列改变,对测序结果进行临床分析。结果JL055的基因型为35delG/299-300delAT,两个等位基因分别来自父系和母系。结论JL055家系的测序结果为遗传咨询和产前诊断提供了理论基础。
Objective To analyze the characteristics of non-syndromic hearing impairment (NSHI) using GJB2 gene mutation in JL055 pedigree to provide theoretical basis for genetic counseling and prenatal diagnosis. Methods Blood samples of proband JL055 from Jilin deaf-mute school and some of their relatives were sequenced by GJB2 polymerase chain reaction (PCR) to detect the sequence changes of GJB2 gene. The clinical results of the sequencing were analyzed analysis. Results The genotype of JL055 was 35delG / 299-300delAT, and the two alleles were from paternal and maternal. Conclusion The sequencing results of JL055 pedigrees provide theoretical basis for genetic counseling and prenatal diagnosis.