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
136-139
,共4页
袁军辉%胡静%赵哲%沈宏锐%李娜%邴琪
袁軍輝%鬍靜%趙哲%瀋宏銳%李娜%邴琪
원군휘%호정%조철%침굉예%리나%병기
Emery-Dreifuss型肌营养不良%LMNA基因%突变%骨骼肌活检
Emery-Dreifuss型肌營養不良%LMNA基因%突變%骨骼肌活檢
Emery-Dreifuss형기영양불량%LMNA기인%돌변%골격기활검
muscular dystrophy%LMNA gene%mutation%muscle biopsy
目的 探讨一个常染色体显性遗传Emery-Dreifuss型肌营养不良(Emery-Dreifuss muscular dystrophy,EDMD)家系的临床、病理及遗传学特点.方法 收集家系中2例患者(先证者及女儿)的临床资料及骨骼肌标本,行组织化学染色病理分析;收集先证者及家系成员(3代7人)血液DNA标本,采用聚合酶链反应和DNA直接测序方法 对LMNA基因进行突变检测;明确基因变异位点后对家系行单倍型分析.结果 先证者具有典型的EDMD临床表现:关节挛缩、进行性加重的肌无力和肌萎缩、心脏传导异常;骨骼肌活检病理示肌源性合并轻度神经源性改变;2例患者LMNA基因第9外显子发现杂合错义突变1583(C→G)(T528R),表型正常的其他家系成员未发现该突变;单倍型分析显示先证者及女儿具有相同的致病单倍型.结论 报道了中国人常染色体显性遗传EDMD患者的表现型及基因型.
目的 探討一箇常染色體顯性遺傳Emery-Dreifuss型肌營養不良(Emery-Dreifuss muscular dystrophy,EDMD)傢繫的臨床、病理及遺傳學特點.方法 收集傢繫中2例患者(先證者及女兒)的臨床資料及骨骼肌標本,行組織化學染色病理分析;收集先證者及傢繫成員(3代7人)血液DNA標本,採用聚閤酶鏈反應和DNA直接測序方法 對LMNA基因進行突變檢測;明確基因變異位點後對傢繫行單倍型分析.結果 先證者具有典型的EDMD臨床錶現:關節攣縮、進行性加重的肌無力和肌萎縮、心髒傳導異常;骨骼肌活檢病理示肌源性閤併輕度神經源性改變;2例患者LMNA基因第9外顯子髮現雜閤錯義突變1583(C→G)(T528R),錶型正常的其他傢繫成員未髮現該突變;單倍型分析顯示先證者及女兒具有相同的緻病單倍型.結論 報道瞭中國人常染色體顯性遺傳EDMD患者的錶現型及基因型.
목적 탐토일개상염색체현성유전Emery-Dreifuss형기영양불량(Emery-Dreifuss muscular dystrophy,EDMD)가계적림상、병리급유전학특점.방법 수집가계중2례환자(선증자급녀인)적림상자료급골격기표본,행조직화학염색병리분석;수집선증자급가계성원(3대7인)혈액DNA표본,채용취합매련반응화DNA직접측서방법 대LMNA기인진행돌변검측;명학기인변이위점후대가계행단배형분석.결과 선증자구유전형적EDMD림상표현:관절련축、진행성가중적기무력화기위축、심장전도이상;골격기활검병리시기원성합병경도신경원성개변;2례환자LMNA기인제9외현자발현잡합착의돌변1583(C→G)(T528R),표형정상적기타가계성원미발현해돌변;단배형분석현시선증자급녀인구유상동적치병단배형.결론 보도료중국인상염색체현성유전EDMD환자적표현형급기인형.
Objective To investigate the clinical, pathological and genetic characteristics in a family with autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD). Methods Clinical data and skeletal muscle specimens were collected from two patients (the proband and her daughter) for pathological analysis. DNA samples of the proband and her family members (7 persons from 3 generations) were obtained for PCR amplification and direct DNA sequencing of the lamin A/C (LMNA) gene. Haplotype analysis was performed after the identification of mutation. Results The proband had typical clinical manifestation of EDMD: joint contracture, progressive muscle weakness and atrophy and cardiac conduction dysfunction. Muscular pathology revealed myopathic changes combined with slight neuropathic changes. A heterozygous missense mutation 1583 (C→G) (T528R) was identified in exon 9 of the LMNA gene in the two patients, but not in other family members. Haplotype analysis indicated that the proband and her daughter shared the same causative haplotype. Conclusion This is the first report of the phenotype and genotype of AD-EDMD in Chinese.