2个中国汉族假肥大型进行性肌营养不良家系分析
R596.2; 目的·通过分析2个中国汉族假肥大型进行性肌营养不良家系的基因变异,提高对本病的认识.方法·回顾性分析2个假肥大型进行性肌营养不良家系中先证者的临床特征,以及先证者及其亲属的多重连接探针扩增(multiplex ligation-dependent probe amplification,MLPA)检测结果.结果·3个携带抗肌萎缩蛋白基因(dystrophin gene,DMD基因)变异的假肥大型进行性肌营养不良先证者均有血清肌酸激酶异常升高,家系1中异卵双生的兄弟2人均为DMD基因8～9号外显子缺失,其母该位点未见异常.家系2中异卵双生之弟为DMD基因48～51号外显子重复,其...
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| Published in | 上海交通大学学报（医学版） Vol. 38; no. 10; pp. 1223 - 1228 |
|---|---|
| Main Authors | , , , , , |
| Format | Journal Article |
| Language | Chinese |
| Published |
上海交通大学医学院附属新华医院新生儿科,上海,200092%上海交通大学医学院附属儿童医学中心内分泌遗传代谢科,上海,200127%上海市儿科医学研究所,上海交通大学医学院附属新华医院,上海200092
01.10.2018
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| Subjects | |
| Online Access | Get full text |
| ISSN | 1674-8115 |
| DOI | 10.3969/j.issn.1674-8115.2018.10.016 |
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| Abstract | R596.2; 目的·通过分析2个中国汉族假肥大型进行性肌营养不良家系的基因变异,提高对本病的认识.方法·回顾性分析2个假肥大型进行性肌营养不良家系中先证者的临床特征,以及先证者及其亲属的多重连接探针扩增(multiplex ligation-dependent probe amplification,MLPA)检测结果.结果·3个携带抗肌萎缩蛋白基因(dystrophin gene,DMD基因)变异的假肥大型进行性肌营养不良先证者均有血清肌酸激酶异常升高,家系1中异卵双生的兄弟2人均为DMD基因8～9号外显子缺失,其母该位点未见异常.家系2中异卵双生之弟为DMD基因48～51号外显子重复,其母为该位点的杂合变异.结论·①异卵双胎存在相同DMD基因突变的家系,若其母亲外周血基因检测正常,则提示其母亲可能为该突变的生殖腺嵌合体,再次生育时须进行产前基因诊断来降低后代患假肥大型进行性肌营养不良的风险.②DMD基因48 ～ 51号外显子重复为致病突变. |
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| AbstractList | R596.2; 目的·通过分析2个中国汉族假肥大型进行性肌营养不良家系的基因变异,提高对本病的认识.方法·回顾性分析2个假肥大型进行性肌营养不良家系中先证者的临床特征,以及先证者及其亲属的多重连接探针扩增(multiplex ligation-dependent probe amplification,MLPA)检测结果.结果·3个携带抗肌萎缩蛋白基因(dystrophin gene,DMD基因)变异的假肥大型进行性肌营养不良先证者均有血清肌酸激酶异常升高,家系1中异卵双生的兄弟2人均为DMD基因8～9号外显子缺失,其母该位点未见异常.家系2中异卵双生之弟为DMD基因48～51号外显子重复,其母为该位点的杂合变异.结论·①异卵双胎存在相同DMD基因突变的家系,若其母亲外周血基因检测正常,则提示其母亲可能为该突变的生殖腺嵌合体,再次生育时须进行产前基因诊断来降低后代患假肥大型进行性肌营养不良的风险.②DMD基因48 ～ 51号外显子重复为致病突变. |
| Author | 谢利娟 洪莎 常国营 朱天闻 刘晓青 赵冬莹 |
| AuthorAffiliation | 上海交通大学医学院附属新华医院新生儿科,上海,200092%上海交通大学医学院附属儿童医学中心内分泌遗传代谢科,上海,200127%上海市儿科医学研究所,上海交通大学医学院附属新华医院,上海200092 |
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| Author_FL | XIE Li-juan CHANG Guo-ying ZHAO Dong-ying ZHU Tian-wen LIU Xiao-qing HONG Sha |
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| Keywords | 假肥大型进行性肌营养不良 异卵双生 多重连接探针扩增技术 肌酸激酶 抗肌萎缩蛋白基因 基因突变 |
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