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面肩肱型肌营养不良症的遗传连锁图谱及4号染色体q35 - qter区域的五个多态性位点

Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-qter.

作者信息

Wijmenga C, Sandkuijl L A, Moerer P, van der Boorn N, Bodrug S E, Ray P N, Brouwer O F, Murray J C, van Ommen G J, Padberg G W

机构信息

MGC-Department of Human Genetics, Leiden University, The Netherlands.

出版信息

Am J Hum Genet. 1992 Aug;51(2):411-5.

PMID:1642239
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1682695/
Abstract

A genetic map of five polymorphic markers in the area of the facioscapulohumeral muscular dystrophy (FSHD) gene on chromosome 4q35-qter has been constructed. With these five markers, a number of recombinants have been identified that allow ordering of the marker and the disease loci. The most likely locus order and the relative position of the FSHD gene supported by the recombinants is centromere-D4S171-F11-D4S187-D4S163-D4S139-FS HD-telomere. However, at least one recombination event appears to be inconsistent with this order and suggests a location of FSHD proximal to D4S139.

摘要

已构建出4号染色体q35 - qter上颜面肩肱型肌营养不良（FSHD）基因区域五个多态性标记的遗传图谱。利用这五个标记，已鉴定出一些重组体，从而能够确定标记和疾病位点的顺序。重组体支持的最可能的位点顺序及FSHD基因的相对位置是：着丝粒 - D4S171 - F11 - D4S187 - D4S163 - D4S139 - FSHD - 端粒。然而，至少有一个重组事件似乎与该顺序不一致，提示FSHD位于D4S139近端。

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Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-qter.面肩肱型肌营养不良症的遗传连锁图谱及4号染色体q35 - qter区域的五个多态性位点
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