一个非综合征性耳聋家系的gjb2基因突变分析及产前诊断.pdfVIP

Med J Chin PLA, Vol. 39, No. 7, July 1, 2014 　557 论　著 一个非综合征性耳聋家系的GJB2基因突变分析及产前诊断 陈晓华，余小艳，周洁，姜威，胡俊，钟山 ，杨国华 [摘要]　目的　确定一个非综合征性耳聋家系的致病基因并为耳聋家庭提供准确的遗传咨询和早期干预，防止耳 聋患儿出生。方法　应用聚合酶链反应-直接测序方法，对该家系成员缝隙连接蛋白2(GJB2)基因的所有外显子及其与 内含子交界处进行测序，寻找基因突变点。对妊娠20周母亲进行产前诊断，行羊膜穿刺，抽取胎儿羊水细胞，提取 DNA测定胎儿基因型，预测胎儿听力状态。结果　该家系先证者GJB2基因携带235delC 、176-191del16bp复合杂合突 变，其父亲携带176-191del16bp杂合突变，其母亲携带235delC杂合突变。胎儿携带来自母亲的235delC杂合突变。结论 　GJB2基因的235delC 、176-191del16bp复合杂合突变是导致先证者耳聋发生的原因。胎儿为235delC杂合突变携带者。 耳聋患者的基因诊断结合产前诊断对预防耳聋家庭再次生育聋儿可起到明确的指导作用。 [关键词]　听觉丧失；基因，GJB2 ；突变；产前诊断 [中图分类号]　R764.44 ；R714.55　　　　[文献标志码]　A　　　　[文章编号]　0577-7402(2014)07-0557-05 [DOI]　10.11855/j.issn.0577-7402.2014.07.09 Mutation analysis of GJB2 gene and prenatal diagnosis in a non-syndromic deafness family CHEN Xiao-hua1,2 3 3 1 1 1* 1* , YU Xiao-yan , ZHOU Jie , JIANG Wei , HU Jun , ZHONG Shan , YANG Guo-hua 1Department of Medical Genetics, School of Basic Medical Science, Wuhan University, Wuhan 430071, China 2Department of Laboratory Medicine, 161 Hospital of PLA, Wuhan 430010, China 3Department of Obstetrics and Gynecology, X iaogan Central Hospital, X iaogan, Hubei 432000, China * Corresponding authors. ZHONG Shan, E-mail: zhongshan@whu.edu.cn; YANG Guo-hua, E-mail: g hyang@whu.edu.cn This work was supported by the Science and Technology Support Program of Health and Family P lanning Commission of Hubei Province (JS-2011013) [Abstract]　Objective　To identify the pathogenic gene in a non-syndromic deafness family, provide an accurate genetic consultation and early intervention for deaf family to reduce the incidence of congenital deafness. Methods　Mutation analysis was carried out by polymerase chain reaction followe