中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2010年
2期
194-197
,共4页
李琦%方如平%周洪根%戴朴%田莉%林镝%黄群%宋建敏
李琦%方如平%週洪根%戴樸%田莉%林鏑%黃群%宋建敏
리기%방여평%주홍근%대박%전리%림적%황군%송건민
GJB2基因%线粒体DNA%突变分析%感音神经性听力损失%杂合子
GJB2基因%線粒體DNA%突變分析%感音神經性聽力損失%雜閤子
GJB2기인%선립체DNA%돌변분석%감음신경성은력손실%잡합자
GJB2 gene%mitochondrial DNA%mutation analysis%sensorineural hearing loss%heterozygote
目的 调查一个同时携带线粒体DNA A1555G突变和GJB2 235delC突变的非综合征型耳聋家系,分析其基因型和听力表型的关系.方法 对家系成员进行临床听力测试,收集家系中8名成员的外周静脉血样本,从白细胞中提取DNA,聚合酶链反应扩增GJB2基因和线粒体DNA(mitochondric DNA,mtDNA)目的 片段,对扩增片段直接测序进行GJB2基因、mtDNA 12S rRNA及tRNASer(UCN)基因突变分析.结果 此家系先证者存在mtDNA A1555G突变和GJB2 235delC杂合突变,听力表型为极重度感音神经性耳聋.其他母系成员携带mtDNA A1555G突变,未发现tRNASer(UCN)基因突变,家系中其他母系成员听力表型为双侧对称高频下降或听力正常.结论 GJB2 235delC单杂合突变可能参与了mtDNA A1555G的听力损害.
目的 調查一箇同時攜帶線粒體DNA A1555G突變和GJB2 235delC突變的非綜閤徵型耳聾傢繫,分析其基因型和聽力錶型的關繫.方法 對傢繫成員進行臨床聽力測試,收集傢繫中8名成員的外週靜脈血樣本,從白細胞中提取DNA,聚閤酶鏈反應擴增GJB2基因和線粒體DNA(mitochondric DNA,mtDNA)目的 片段,對擴增片段直接測序進行GJB2基因、mtDNA 12S rRNA及tRNASer(UCN)基因突變分析.結果 此傢繫先證者存在mtDNA A1555G突變和GJB2 235delC雜閤突變,聽力錶型為極重度感音神經性耳聾.其他母繫成員攜帶mtDNA A1555G突變,未髮現tRNASer(UCN)基因突變,傢繫中其他母繫成員聽力錶型為雙側對稱高頻下降或聽力正常.結論 GJB2 235delC單雜閤突變可能參與瞭mtDNA A1555G的聽力損害.
목적 조사일개동시휴대선립체DNA A1555G돌변화GJB2 235delC돌변적비종합정형이롱가계,분석기기인형화은력표형적관계.방법 대가계성원진행림상은력측시,수집가계중8명성원적외주정맥혈양본,종백세포중제취DNA,취합매련반응확증GJB2기인화선립체DNA(mitochondric DNA,mtDNA)목적 편단,대확증편단직접측서진행GJB2기인、mtDNA 12S rRNA급tRNASer(UCN)기인돌변분석.결과 차가계선증자존재mtDNA A1555G돌변화GJB2 235delC잡합돌변,은력표형위겁중도감음신경성이롱.기타모계성원휴대mtDNA A1555G돌변,미발현tRNASer(UCN)기인돌변,가계중기타모계성원은력표형위쌍측대칭고빈하강혹은력정상.결론 GJB2 235delC단잡합돌변가능삼여료mtDNA A1555G적은력손해.
Objective To investigate a non-syndromic deafness family in which potential interaction between the GJB2 gene and a mitochondrial gene appeared to be the cause of hearing impairment. Methods Audiological examination was performed by pure-tone audiometry (PTA). Blood samples from 8 members of the pedigree were obtained. DNA was extracted from the leukocytes. The coding region of the GJB2 gene and mitochondrial DNA target fragments were amplified by polymerase chain reaction (PCR). The PCR products were analyzed by sequencing. Results Direct sequencing showed that the proband had both a heterozygous mutation of 235delC in the GJB2 gene and a mitochondrial 1555 A to G mutation. The proband had profound hearing loss. The maternal relatives had sensorineural hearing loss in the higher frequencies or no hearing loss. Conclusion The GJB2 mutations may bean aggravating factor in the phenotypic expression of the non-syndromic hearing loss associated with the A1555G mitochondrial mutation.
