与X连锁显性遗传性腓骨肌萎缩症相关的连接蛋白32中精氨酸164位色氨酸替代

Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease.

作者信息

Oterino A, Montón F I, Cabrera V M, Pinto F, Gonzalez A, Lavilla N R

机构信息

Hospital Nuestra Señora La Candelaria, Santa Cruz de Tenerife, Spain.

出版信息

J Med Genet. 1996 May;33(5):413-5. doi: 10.1136/jmg.33.5.413.

DOI:10.1136/jmg.33.5.413

PMID:8733054

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050613/

Abstract

A Spanish family with X linked dominant Charcot-Marie-Tooth (CMTX1) neuropathy was screened for point mutations in the connexin32 gene (GJ beta 1). The patients showed a C-T transition at position 552 which predicts arginine to tryptophan substitution at amino acid 164 (R164K). This mutation destroys an AciI restriction site at position 552 and creates a PflMI restriction site.

摘要

对一个患有X连锁显性遗传性腓骨肌萎缩症（CMTX1）的西班牙家族进行了连接蛋白32基因（GJβ1）点突变筛查。患者在552位出现了C-T转换，预测该位点的精氨酸被色氨酸替代（R164K）。此突变破坏了552位的AciI限制性酶切位点，并产生了一个PflMI限制性酶切位点。