7个非综合征型耳聋家系患者的mtDNA A1555G突变分析

Study of mitochondrial DNA A1555G mutation of seven families with nonsyndromic hearing impairment

目的探讨非综合征型耳聋家系患者mtDNAA1555G突变及其临床特征。方法应用聚合酶链反应、限制性核酸内切酶酶切和DNA测序技术对7个非综合征型耳聋家系112个成员的mtDNAA1555G突变进行检测,并分析听力临床资料。结果7个家系中所有受检的母系成员mtDNAA1555G突变均为阳性,突变性质含同质性和异质性二种;非母系成员及配偶该突变为阴性。突变的性质与临床表型的有关。结论mtDNAA1555G突变可导致非综合征型耳聋和氨基糖苷类抗生素致聋,其突变性质含均质性和异质性两种,且与临床表型相关。

Objective： To Study of mitochondrial DNA A1555G mutation of seven families with nonsyndromic hearing impairment. Methods： Polymerase chain reaction restriction fragment length polymorphism （PCR - RFLP） and direct sequencing were applied to detect mtDNA A1555G in seven family of NSHL, The related clinical data were also collected and analyzed. Results： All of whom were from the maternal side, mtDNA A1555G are positive, others are negative. Conclusion： The mutation rate of the mtDNA A1555G is high in the NSHI patients, the mutation type conclude heteroplasmy and homozygosis.