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希腊杜兴氏/贝克氏肌营养不良症(DMD/BMD)家系中肌营养不良蛋白基因重组体的定位:STR区域的低重组频率

Mapping dystrophin gene recombinants in Greek DMD/BMD families: low recombination frequencies in the STR region.

作者信息

Florentin L, Bili C, Kekou K, Tripodis N, Mavrou A, Metaxotou C

机构信息

1st Department of Pediatrics, Athens University, Aghia Sophia Children's Hospital, Greece.

出版信息

Hum Genet. 1995 Oct;96(4):423-6. doi: 10.1007/BF00191800.

Abstract

A systematic study of 42 Greek DMD/BMD families using 14 polymorphic markers that span the dystrophin gene was performed in order to assess the position and frequency of recombinants in the Greek population and to test whether "hot spots" of recombination and deletions coincide when exclusively studying DMD/BMD families. We report a low percentage of recombination between markers STR44 and STR50; otherwise, the distribution of recombination events in other parts of the gene is largely in agreement with previously published data on Centre d'Etude du Polymorphisme Humaine families. We therefore propose that recombination frequencies and the correlation between recombination and deletion "hot spots" should be evaluated on DMD/BMD families exclusively.

摘要

为了评估希腊人群中重组子的位置和频率,并检验在专门研究杜氏肌营养不良症(DMD)/贝克型肌营养不良症(BMD)家族时重组和缺失的“热点”是否重合,我们使用跨越肌营养不良蛋白基因的14个多态性标记对42个希腊DMD/BMD家族进行了系统研究。我们报告了标记STR44和STR50之间的重组率较低;否则,该基因其他部分的重组事件分布与先前发表的关于人类多态性研究中心家族的数据基本一致。因此,我们建议应仅对DMD/BMD家族评估重组频率以及重组与缺失“热点”之间的相关性。

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