2A型肢带型肌营养不良症（钙蛋白酶3）：利用等位基因关联进行定位

Limb girdle muscular dystrophy type 2A (CAPN3): mapping using allelic association.

作者信息

Lonjou C, Collins A, Beckmann J, Allamand V, Morton N

机构信息

Human Genetics, University of Southampton, Princess Anne Hospital, Southampton, UK.

出版信息

Hum Hered. 1998 Nov-Dec;48(6):333-7. doi: 10.1159/000022825.

DOI:10.1159/000022825

PMID:9813455

Abstract

Recently a graphical study of linkage disequilibrium around the CAPN3 locus failed to refine the 1.3-Mb interval suggested by haplotype sharing. On the contrary, the Malecot model as implemented in the ALLASS program maps CAPN3 within 3 kb of its true location (23 kb from the locus midpoint), overcoming identified problems with small samples, interrelated sibships, and short duration.

摘要

最近，一项关于钙蛋白酶3（CAPN3）基因座周围连锁不平衡的图形研究未能细化单倍型共享所提示的1.3兆碱基（Mb）区间。相反，ALLASS程序中实施的马勒科特模型将CAPN3定位在其真实位置的3千碱基（kb）范围内（距基因座中点23 kb），克服了已发现的小样本、相关同胞关系和短持续时间等问题。