摘要
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.
出处
《中国优生与遗传杂志》
2008年第3期38-41,共4页
Chinese Journal of Birth Health & Heredity
基金
福建医科大学研究发展基金(FJGXY04005)