GJB2基因突变导致非综合征性耳聋的特点及JL055小家系

Characteristics of non-syndromic hearing impairment induced by GJB2 gene mutation and family JL055

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 induced by GJB2 gene mutation in order to provide theoretical basis for genetic counseling and prenatal diagnosis. Methods Subjects consisted of proband JL055 from the Deaf School of Jilin and some family members. The blood samples were collected and genomic DNA was extracted by extraction kits. Using polymerase chain reaction （PCR）, the code region of GJB2 gene was amplified. The mutations were detected by direct sequence analysis. Results The genotype of JL055 is 35delG/299-300delAT and the alleles are of paternal and maternal origin, respectively. Conclusion The sequencing results of family JL055 provide a rationale for genetic counseling and prenatal diagnosis.