先天性肌强直症与7号染色体q35区域的T细胞受体β（TCRB）基因座的连锁关系。

Linkage of Thomsen disease to the T-cell-receptor beta (TCRB) locus on chromosome 7q35.

作者信息

Abdalla J A, Casley W L, Cousin H K, Hudson A J, Murphy E G, Cornélis F C, Hashimoto L, Ebers G C

机构信息

Richard Ivey Center for Molecular Biology, University Hospital, London, Ontario, Canada.

出版信息

Am J Hum Genet. 1992 Sep;51(3):579-84.

PMID:1386711

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1682708/

Abstract

The chromosomal localization of the gene for Thomsen disease, an autosomal dominant form of myotonia congenita, is unknown. Electrophysiologic data in Thomsen disease point to defects in muscle-membrane ion-channel function. A mouse model of myotonia congenita appears to result from transposon inactivation of a muscle chloride-channel gene which maps to a region of mouse chromosome 6. The linkage group containing this gene includes several loci which have human homologues on human chromosome 7q31-35 (synteny), and this is a candidate region for the Thomsen disease locus. Linkage analysis of Thomsen disease to the T-cell-receptor beta (TCRB) locus at 7q35 was carried out in four pedigrees (25 affected and 23 unaffected individuals) by using a PCR-based dinucleotide repeat polymorphism in the TCRB gene. Two-point linkage analysis between Thomsen disease and TCRB showed a maximum cumulative lod score of 3.963 at a recombination fraction of .10 (1-lod support interval .048-.275). We conclude that the Thomsen disease locus is linked to the TCRB locus in these families.

摘要

先天性肌强直的常染色体显性形式——汤姆森病（Thomsen disease）的基因在染色体上的定位尚不清楚。汤姆森病的电生理数据表明其肌肉膜离子通道功能存在缺陷。先天性肌强直的小鼠模型似乎是由一个肌肉氯通道基因的转座子失活导致的，该基因定位于小鼠6号染色体的一个区域。包含此基因的连锁群包括几个在人类7号染色体q31 - 35区域有人类同源物的位点（同线性），这是汤姆森病基因座的一个候选区域。通过使用基于PCR的TCRB基因双核苷酸重复多态性，对4个家系（25名患者和23名未患病个体）进行了汤姆森病与7q35处T细胞受体β（TCRB）基因座的连锁分析。汤姆森病与TCRB之间的两点连锁分析显示，在重组率为0.10时，最大累积lod分数为3.963（1 - lod支持区间为0.048 - 0.275）。我们得出结论，在这些家系中，汤姆森病基因座与TCRB基因座连锁。