Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients.
Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients.
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DOI：
10.1038/jhg.2013.119
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发表时间：
2014-01
影响因子：
3.5
通讯作者：
中科院分区：
文献类型：
--
作者：
Duchenne和Becker肌营养不良症（DMD/BMD）是由肌营养不良蛋白基因突变引起的x连锁遗传性肌肉疾病。三分之二的DMD病例被认为是由携带者母亲遗传引起的，本研究旨在根据突变类型澄清和比较DMD和BMD患者母亲的携带者频率。我们纳入了139名DMD和19名BMD母亲。其中，113例患者（99例DMD和14例BMD）和13例患者（12例DMD和1例BMD）分别有一个或多个外显子缺失和重复。在32例患者（28例DMD和4例BMD）中发现了小突变，包括无义突变、小缺失/插入和剪接位点突变。BMD母亲的总体携带频率显著高于DMD母亲（89.5% vs 57.6%， P<0.05），可能与BMD患者可以留下后代有关。缺失突变的DMD患者母亲的携带频率往往低于重复和小突变的DMD患者母亲（分别为53.5%、66.7%和67.9%）。有人认为，从头突变比其他突变更普遍的缺失。这是第一个根据突变类型分析携带者频率的报告。
Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked inherited muscular disorders caused by mutations in the dystrophin gene. Two-thirds of DMD cases are thought to be caused by inheritance from carrier mothers and this study aimed to clarify and compare the carrier frequency of mothers of DMD and BMD patients according to the mutation type. We included 139 DMD and 19 BMD mothers. Of these, 113 patients (99 DMD and 14 BMD) and 13 patients (12 DMD and 1 BMD) had deletions and duplications of one or more exons, respectively. Small mutations, including nonsense mutations, small deletions/insertions and splice site mutations, were identified in 32 patients (28 DMD and four BMD). The overall carrier frequency for BMD mothers was significantly higher than for DMD (89.5% vs 57.6%, P<0.05), probably as BMD patients can leave descendants. The carrier frequency tended to be lower in mothers of DMD patients with deletion mutations than with duplications and small mutations (53.5%, 66.7% and 67.9%, respectively). It was suggested that de novo mutations are more prevalent for deletions than other mutations. This is the first report to analyze the carrier frequency according to mutation type.
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影响因子：
3.5
作者：
Helderman-van den Enden, A. T. J. M.;de Jong, R.;Bakker, E.
通讯作者：
Bakker, E.
DOI：
10.1002/ajmg.1320120407
发表时间：
1982-01-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
WINTER, RM;PEMBREY, ME
通讯作者：
PEMBREY, ME
影响因子：
4
作者：
GRIMM, T;MENG, G;MULLER, B
通讯作者：
MULLER, B
DOI：
10.1038/ejhg.2012.101
发表时间：
2013-01
期刊：
European journal of human genetics : EJHG
影响因子：
--
作者：
通讯作者：
--
影响因子：
3.5
作者：
Takeshima, Yasuhiro;Yagi, Mariko;Matsuo, Masafumi
通讯作者：
Matsuo, Masafumi