【摘要】 目的分析内蒙古地区23个非综合征型耳聋家系缝隙连接蛋白β2(gap junction protein beta 2,GJB2)基因突变特点,探讨该耳聋家系遗传学病因。方法对内蒙古地区23个非综合征型遗传性聋家系共122人进行问卷调查、听力学检查,提取外周血DNA,经聚合酶链反应(PCR)扩增GJB2基因编码区进行直接测序,运用DNAStar软件进行测序结果分析。结果共检测到8个家系46名家系个体存在8种GJB2基因核酸序列改变。包括5种致病突变及3种多态性改变,明确了6个耳聋家系的遗传学病因为GJB2基因纯合突变所致。GJB2基因突变在23个家系中的检出率为33%(8/23),在122个家系个体的检出率为33%(37/122),在62例耳聋患者中的检出率为60%(37/62)。c.235delC突变检出率最高,为52%(32/62),其次为c.299-300delAT,突变携带率为8%(5/62)。结论内蒙古地区家系遗传性聋GJB2基因突变有较高的携带率,c.235delC位点是最常见的致病位点,其次为c.299-300delAT。以散发耳聋患者为根源,对其亲属进行耳聋基因筛查可以更加高效的发现潜在的耳聋基因突变携带者。更多还原

【Abstract】 OBJECTIVE To analyze the characteristics of GJB2 gene mutation in 23 families with non-syndrome hereditary deafness in Inner Mongolia,and to discuss the genetic etiology.METHODS We chose 122 people from 23 families with non-syndrome hereditary deafness in Inner Mongolia,and did investigation questionnaires,audiology examinations,DNA abstraction from peripheral blood,PCR sequencing and results analysis by DNA Star software.RESULTS Eight kinds of GJB2 gene mutations were found in 46 people from 8 families,including 5 pathological mutations and 3 polymorphic mutations.It also shows the genetic etiology for 6 families is GJB2 homozygous mutation.The rate of GJB2 mutation in 23 families is 33%(8/23),in 122 individuals from 23 families is 33%(37/122),and in 62 deaf patients is 60%(37/62).c.235delC mutation takes 52%(32/62),which is the most common.c.299-300delAT mutation takes 8%(5/62),which is less more than c.235delC mutation.CONCLUSION There is a relatively high rate of GJB2 mutation in hereditary deafness families from Inner Mongolia.c.235delC is the most common mutation,and c.299-300delAT takes the second place.Based on the sporadic deafness patients,we provide their family members with deafness gene screening in order to find potential deafness gene mutation carriers in a more efficient way.更多还原