印度东部强直性肌营养不良患者肌强直性蛋白激酶基因中CTG扩增的分子解剖学

Molecular anatomy of CTG expansion in myotonin protein kinase gene among myotonic dystrophy patients from eastern India.

作者信息

Basu P, Gangopadhaya P K, Mukherjee S C, Das S K, Sinha K K, Bhattacharyya N P

机构信息

Crystallography and Molecular Biology Division, Saha Institute of Nuclear Physics, 1/AF, Bidhan Nagar, Calcutta-700 064.

出版信息

Hum Mutat. 2000 Oct;16(4):372. doi: 10.1002/1098-1004(200010)16:4<372::AID-HUMU13>3.0.CO;2-G.

DOI:10.1002/1098-1004(200010)16:4<372::AID-HUMU13>3.0.CO;2-G

PMID:11013451

Abstract

We have studied the CTG repeat sizes in the DMPK gene and six biallelic markers which are in complete linkage disequlibrium with Caucasian DM patients, to identify any common founder haplotype in 30 clinically diagnosed unrelated DM patients from eastern India. Our results revealed that in 27 patients (90%), CTG expansion took place on a DraIII(-) - HhaI(-) - Alu(+) - HinfI(+) - Fnu4H I(-) - TaqI(+) haplotype (haplotype I), similar to what have been published for Caucasoid and other DM patients. However, in three patients (10%), the expansion of CTG repeat was on DraIII(+) - HhaI(+) - Alu(+) - HinfI(-) - Fnu4H I(+) - TaqI(-) background (haplotype II), indicating a new haplotype. The distribution of haplotypes in 52 normal individuals of eastern India revealed that percentage of haplotypes I and II were 23.1% and 7.7% respectively in normal chromosomes. Haplotype II is absent among Caucasian DM patients as well as normal individuals indicating that this particular haplotype may be characteristic of the Indian population. Hum Mutat 16:372, 2000.

摘要

我们研究了强直性肌营养不良蛋白激酶（DMPK）基因中的CTG重复序列大小以及与白种人糖尿病患者完全连锁不平衡的六个双等位基因标记，以确定来自印度东部的30名临床诊断为非亲属关系的糖尿病患者中是否存在任何常见的奠基者单倍型。我们的结果显示，在27名患者（90%）中，CTG扩增发生在DraIII(-) - HhaI(-) - Alu(+) - HinfI(+) - Fnu4H I(-) - TaqI(+)单倍型（单倍型I）上，这与已发表的白种人和其他糖尿病患者的情况相似。然而，在三名患者（10%）中，CTG重复序列的扩增是在DraIII(+) - HhaI(+) - Alu(+) - HinfI(-) - Fnu4H I(+) - TaqI(-)背景（单倍型II）上，表明这是一种新的单倍型。对印度东部52名正常个体的单倍型分布研究显示，在正常染色体中，单倍型I和II的比例分别为23.1%和7.7%。白种人糖尿病患者以及正常个体中均不存在单倍型II，这表明这种特定的单倍型可能是印度人群的特征。《人类突变》16:372，2000年。