常染色体显性面肩肱型肌营养不良的连锁研究

Linkage studies in autosomal dominant facioscapulohumeral muscular dystrophy.

作者信息

Padberg G, Eriksson A W, Volkers W S, Bernini L, Van Loghem E, Meera Khan P, Nijenhuis L E, Pronk J C, Schreuder G M

出版信息

J Neurol Sci. 1984 Sep;65(3):261-8. doi: 10.1016/0022-510x(84)90090-x.

Abstract

Linkage studies were undertaken in 120 individuals from 10 kindreds with autosomal dominant facioscapulohumeral muscular dystrophy using 35 different marker genes. No linkage was found. The highest lod score was 1.438 for the immunoglobulin heavy chain gene cluster (IGH) at a recombination fraction of 0.2. IGH is located on the long arm of chromosome 14. Based on scores of other marker genes and on a recombination map of chromosome 14, the probability that the gene for facioscapulohumeral muscular dystrophy is located on chromosome 14 is estimated to be approximately 6%.

摘要

利用35个不同的标记基因，对来自10个常染色体显性遗传面肩肱型肌营养不良家系的120名个体进行了连锁研究。未发现连锁关系。免疫球蛋白重链基因簇（IGH）在重组率为0.2时的最高对数优势分数为1.438。IGH位于14号染色体长臂上。根据其他标记基因的分数以及14号染色体的重组图谱，面肩肱型肌营养不良基因位于14号染色体上的概率估计约为6%。