利用11个法裔加拿大家庭的连锁分析的全部力量来精细定位眼咽型肌营养不良基因。

Using the full power of linkage analysis in 11 French Canadian families to fine map the oculopharyngeal muscular dystrophy gene.

作者信息

Brais B, Bouchard J P, Gosselin F, Xie Y G, Fardeau M, Tomé F M, Rouleau G A

机构信息

Centre for Research in Neurosciences, McGill University, Montréal, Québec, Canada.

出版信息

Neuromuscul Disord. 1997 Oct;7 Suppl 1:S70-4. doi: 10.1016/s0960-8966(97)00086-2.

DOI:10.1016/s0960-8966(97)00086-2

PMID:9392020

Abstract

Oculopharyngeal muscular dystrophy (OPMD) is a late onset autosomal dominant muscular dystrophy with a high prevalence in the French Canadian population. We report linkage analysis with 7 chromosome 14q polymorphic markers in 11 large French Canadian families. An observed recombination in one family establishes D14S283 as the new centromeric flanking marker, therefore reducing the previously reported candidate interval from 5cM to 2cM. The highest two-point LOD score was 26.05 at theta = 0.01 for MYH7.1. Multipoint analysis suggested that the OPMD genes lies within a 1.5cM region around D14S990. This study of large French Canadian families underlines the great power of this population to fine map disease genes.

摘要

眼咽型肌营养不良症（OPMD）是一种迟发性常染色体显性肌营养不良症，在法裔加拿大人中具有较高的发病率。我们报告了对11个法裔加拿大大家庭中7个14号染色体q多态性标记进行的连锁分析。在一个家族中观察到的重组将D14S283确立为新的着丝粒侧翼标记，从而将先前报道的候选区间从5厘摩缩小到2厘摩。对于MYH7.1，在θ = 0.01时，最高两点连锁对数得分是26.05。多点分析表明，OPMD基因位于D14S990周围1.5厘摩的区域内。对法裔加拿大大家庭的这项研究突出了该人群在精细定位疾病基因方面的强大作用。