中国医药
中國醫藥
중국의약
CHINA MEDICINE
2012年
6期
657-659
,共3页
冯建忠%潘齐川%王兵%徐潮%马修云%孙逊%潘春明%赵双霞%苏斌%宋怀东
馮建忠%潘齊川%王兵%徐潮%馬脩雲%孫遜%潘春明%趙雙霞%囌斌%宋懷東
풍건충%반제천%왕병%서조%마수운%손손%반춘명%조쌍하%소빈%송부동
心肌病,肥厚型,家族性%β肌球蛋白重链基因%突变
心肌病,肥厚型,傢族性%β肌毬蛋白重鏈基因%突變
심기병,비후형,가족성%β기구단백중련기인%돌변
Cardiomyopathy,hypertrophic,familial%Beta myosin heavy chain genes%Mutation
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关系.方法 收集到一规模较大的FHCM家系,共5代89位成员,采集到67份血样.用primerexperss 2.0软件设计引物扩增肌球蛋白结合蛋白C3( MyBPC3)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,用Autoassembler 2.0软件将测序结果与MyBPC3的基因组序列进行比较、分析.结果 该家系共14例患者(4例已去世,其中2例是年轻时猝死),在世的10例患者左心室壁厚度均超过13 mm.符合常染色体显性遗传病的特点.经突变筛查,发现2处碱基改变,经检索国家生物技术信息中心单核苷酸多态性数据库,这些碱基改变均为多态性.结论 MyBPC3基因不是该家系的致病基因,反映了肥厚型心肌病的遗传异质性,需对其他可能的候选致病基因进行筛查.
目的 研究一漢族傢族性肥厚型心肌病(FHCM)傢繫患者的緻病基因突變位點,分析其基因型與錶型關繫.方法 收集到一規模較大的FHCM傢繫,共5代89位成員,採集到67份血樣.用primerexperss 2.0軟件設計引物擴增肌毬蛋白結閤蛋白C3( MyBPC3)基因的各外顯子及相鄰內含子區,產物純化後應用美國ABI PRISM 3700 DNA自動測序儀進行測序,用Autoassembler 2.0軟件將測序結果與MyBPC3的基因組序列進行比較、分析.結果 該傢繫共14例患者(4例已去世,其中2例是年輕時猝死),在世的10例患者左心室壁厚度均超過13 mm.符閤常染色體顯性遺傳病的特點.經突變篩查,髮現2處堿基改變,經檢索國傢生物技術信息中心單覈苷痠多態性數據庫,這些堿基改變均為多態性.結論 MyBPC3基因不是該傢繫的緻病基因,反映瞭肥厚型心肌病的遺傳異質性,需對其他可能的候選緻病基因進行篩查.
목적 연구일한족가족성비후형심기병(FHCM)가계환자적치병기인돌변위점,분석기기인형여표형관계.방법 수집도일규모교대적FHCM가계,공5대89위성원,채집도67빈혈양.용primerexperss 2.0연건설계인물확증기구단백결합단백C3( MyBPC3)기인적각외현자급상린내함자구,산물순화후응용미국ABI PRISM 3700 DNA자동측서의진행측서,용Autoassembler 2.0연건장측서결과여MyBPC3적기인조서렬진행비교、분석.결과 해가계공14례환자(4례이거세,기중2례시년경시졸사),재세적10례환자좌심실벽후도균초과13 mm.부합상염색체현성유전병적특점.경돌변사사,발현2처감기개변,경검색국가생물기술신식중심단핵감산다태성수거고,저사감기개변균위다태성.결론 MyBPC3기인불시해가계적치병기인,반영료비후형심기병적유전이질성,수대기타가능적후선치병기인진행사사.
Objective To identify the disease-causing gene mutation and to investigate the genotype-pheno-type correlation in a Chinese pedigree with familial hypertrophic cardiomyopathy(FHCM).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 cardiac myosin binding protein-C3 gene were amplified by polymeras chain reation(PCR) and directly sequenced by ABI PRISM 3700 DNA sequencer.The mutation was examined.Results Fourteen family members had hypertrophic cardiomyopathy.Echocardiography showed all living affected individuals had a maximal left ventricular wall thickness of at least 13 mm.Two single nucleotide polymorphisms (SNP) were found and have been reported in NCBI SNP database.No mutation co-seperated with the disease was identified.Conclusions FHCM of this family is not caused by MyBPC3 mutation.Other genes should be screened.
