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面肩肱型(兰杜齐-德热里纳型)肌营养不良症的排除图谱。

An exclusion map for facioscapulohumeral (Landouzy-Déjérine) disease.

作者信息

Sarfarazi M, Upadhyaya M, Padberg G, Pericak-Vance M, Siddique T, Lucotte G, Lunt P

机构信息

Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff.

出版信息

J Med Genet. 1989 Aug;26(8):481-4. doi: 10.1136/jmg.26.8.481.

Abstract

By using the genetic linkage data between the facioscapulohumeral muscular dystrophy (FSHD) gene and 57 markers on various autosomes, we have constructed an exclusion map for this disorder. The maximum likelihood location of the FSHD gene and the percentage of the excluded areas on each chromosome are presented here. This exclusion map shows that more than 80% of the genome has been excluded as a likely location of any locus responsible for FSHD in the majority of families. Chromosomes 3, 5, 10, 11, 15, and 19 remain largely unexcluded. Concentration on the highlighted areas of the genome should facilitate the identification of the site of the FSHD gene.

摘要

通过利用面肩肱型肌营养不良症(FSHD)基因与各常染色体上57个标记之间的遗传连锁数据,我们构建了该疾病的排除图谱。本文给出了FSHD基因的最大似然定位以及每条染色体上排除区域的百分比。该排除图谱显示,在大多数家族中,超过80%的基因组已被排除为任何导致FSHD的基因座的可能位置。3号、5号、10号、11号、15号和19号染色体在很大程度上仍未被排除。专注于基因组的突出区域应有助于识别FSHD基因的位点。

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