Becker muscular dystrophy recombinant DNA studies in identical twins

Becker muscular dystrophy recombinant DNA studies in identical twins
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DOI：
10.1002/mus.880110402
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发表时间：
1988-04
期刊：
Muscle & Nerve
影响因子：
3.4
通讯作者：
V. Ionasescu;R. Ionasescu;C. Searby;T. Burns
V. Ionasescu;R. Ionasescu;C. Searby;T. Burns
中科院分区：
医学3区
文献类型：
--
作者：
V. Ionasescu;R. Ionasescu;C. Searby;T. Burns

文献摘要

被引文献

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报告两例同卵双生的贝克氏肌营养不良症。这对双胞胎的ABO、Rh、CDE、MNS、Kelly、刘易斯、Duffy和Kidd红细胞类型相同。HLA分型检测到两对双胞胎相同的抗原：A1，A26，B8，B17，DR3，DR7。家族史为阴性。双胞胎患者表现出相同的单倍型，不同于家庭中正常男性成员的单倍型。双胞胎的姐姐显示出重组的X染色体。双胞胎中存在的BMD基因的信息单倍型也在其母亲中确定。我们的研究结果强烈表明，突变发生在母亲或双胞胎中。
Two identical twins with becker Muscular Dystrophy are reported. Both twins had the same red cell types for ABO, Rh, CDE, MNSs, Kelly, Lewis, Duffy, and Kidd. HLA typing detected the same antigens in both twins: A1, A26, B8, B17, DR3, DR7. Family history was negative. The twin patients showed identical haplotypes that were different from the haplotypes of the normal male members of the family. The sister of the twins showed a recombinant X chromosome. The informative haplotype with respect to the gene of BMD, present in the twins, was ascertained in their mother as well. Our findings strongly suggest that a mutation has occurred either in the mother or in the twins.