CAJ | 학술논문

目的研究一汉族家族性肥厚型心肌病(FHCM)家系患者的致病基因突变位点,分析其基因型与表型的关系.方法收集到一个规模较大的FHCM家系,共5代89位成员,采集到67份血样.用Primer experss 2.0软件设计引物,分别扩增β肌球蛋白重链(MYH7)基因的各外显子及相邻内含子区,产物纯化后应用美国ABI PRISM 3700 DNA自动测序仪进行测序,其后用Autoassembler 2.0软件将测序结果与MYH7的基因组序列进行比较分析.结果该家系共有14例患者,4例已经去世,其中2例是年轻时猝死.在世的10例患者的左心室壁厚度均＞13 mm.符合常染色体显性遗传病的特点.经突变筛查,发现3处碱基改变,经检索NCBISNP数据库,这些碱基改变均为多态性.结论 MYH7基因不是该家系的致病基因,反映了HCM的遗传异质性,需要对其他可能的候选致病基因进行筛查.
목적 연구일한족가족성비후형심기병(FHCM)가계환자적치병기인돌변위점,분석기기인형여표형적관계.방법 수집도일개규모교대적FHCM가계,공5대89위성원,채집도67빈혈양.용Primer experss 2.0연건설계인물,분별확증β기구단백중련(MYH7)기인적각외현자급상린내함자구,산물순화후응용미국ABI PRISM 3700 DNA자동측서의진행측서,기후용Autoassembler 2.0연건장측서결과여MYH7적기인조서렬진행비교분석.결과 해가계공유14례환자,4례이경거세,기중2례시년경시졸사.재세적10례환자적좌심실벽후도균＞13 mm.부합상염색체현성유전병적특점.경돌변사사,발현3처감기개변,경검색NCBISNP수거고,저사감기개변균위다태성.결론 MYH7기인불시해가계적치병기인,반영료HCM적유전이질성,수요대기타가능적후선치병기인진행사사.
Objective To identify the disease-causing gene mutation and investigate the genotypephenotype correlation in a Chinese pedigree with familial hypertrophic cardiomyopathy.Methods In this study we collected a large multigenerational Chinese family with FHCM.Total genome DNA was extracted from 67 subjects' peripheral leucocytes.The exons and boundary introns of MYH7 gene was amplified by PCR and directly sequenced by ABI PRISM 3700 DNA sequencer.Then,the mutation was examined.Results Fourteen family members had hypertrophic cardiomyopathy,including 4 deceased 2 of whom died from sudden death at young age.Analysis by echocardiography showed all the 10 living affected individuals have a maximal leftventricular-wall thickness of at least 13 mm.Three single nucleotide polymorphisms (SNP) which had been reported in NCBI SNP database,were found mutated.No mutation co-seperated with the disease was identified.Conclusion FHCM of this family was not caused by MYH7 mutation.Other genes should be screened to further identify the disease-causing gene mutation in hypertrophic cardiomyopathy.