CAJ | 학술논문

在问卷调查及家系随访的基础上，在安徽省淮北市收集到一母系遗传非综合征耳聋家系，利用聚合酶链式反应-限制片段长度多态性分析（PCR-RFLP）和测序技术，检测了该家系成员线粒体DNA（mtDNA）上可导致非综合征耳聋的两个突变热点处（12S rRNA基因上的1555位点和tRNASer（UCN）基因上的7445位点）的碱基变化，发现该家系所有母系成员的mtDNA上都有A1555G同质型突变，但7445位点无异常；进而对该家系两个表型明显不同母系成员（一例具有先天性耳聋表型，另一例听力正常）的mtDNA进行全长测序，结果未在mtD-NA上发现除A1555G以外的其他位点突变，只发现了27处多态性序列变化，且两成员的mtDNA无序列差异。说明mtDNA上的A1555G同质型突变是该家系部分母系成员致聋的分子生物学基础之一；推测该家系A1555G突变携带者临床表型的差异可能与mtDNA多态性无关，而更可能是核修饰基因与A1555G突变协同作用的结果。
재문권조사급가계수방적기출상，재안휘성회북시수집도일모계유전비종합정이롱가계，이용취합매련식반응-한제편단장도다태성분석（PCR-RFLP）화측서기술，검측료해가계성원선립체DNA（mtDNA）상가도치비종합정이롱적량개돌변열점처（12S rRNA기인상적1555위점화tRNASer（UCN）기인상적7445위점）적감기변화，발현해가계소유모계성원적mtDNA상도유A1555G동질형돌변，단7445위점무이상；진이대해가계량개표형명현불동모계성원（일례구유선천성이롱표형，령일례은력정상）적mtDNA진행전장측서，결과미재mtD-NA상발현제A1555G이외적기타위점돌변，지발현료27처다태성서렬변화，차량성원적mtDNA무서렬차이。설명mtDNA상적A1555G동질형돌변시해가계부분모계성원치롱적분자생물학기출지일；추측해가계A1555G돌변휴대자림상표형적차이가능여mtDNA다태성무관，이경가능시핵수식기인여A1555G돌변협동작용적결과。
Based on the questionnaire and the follow-up study,a pedigree with maternally inherited nonsyn-dromic hearing loss in Huaibei,Anhui province was reported.PCR-RFLP and DNA sequencing were used to detect the nucleotide changes on the sites of nt1555 and nt7445,which are the hot spots for mutations associ-ated with hearing loss in the mitochondrial 12S rRNA and tRNASer(UCN) genes respectively.Molecular analysis showed that all the matrilineal members in this pedigree carried the A1555G homozygous mutation,but no nucleotide changes were found on the site of nt7445.Subsequently,the complete mitochondrial genomes from two matrilineal members with different phenotypes were PCR amplified and sequenced.27 mitochondrial DNA polymorphisms were found to be common in these two matrilineal members.This indicated that the mito-chondrial DNA A1555G mutation was one of the major factors leading to matrilineal nonsyndromic hearing loss in this pedgree,and the different phenotypes for the matrilineal members with the same A1555G muta-tion could mainly be the result of the nuclear modifier gene(s).