Molecular genetic analysis of trinucleotide repeat disorders (TRDs) in Indian population and application of repeat primed PCR

被引：6

作者：

Das Bhowmik, Aneek ^{[1
]}

Rangaswamaiah, Savithri ^{[1
]}

Srinivas, G. ^{[1
]}

Dalal, Ashwin B. ^{[1
]}

机构：

[1] Ctr DNA Fingerprinting & Diagnost, Div Diagnost, Hyderabad 500001, Andhra Pradesh, India

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2015年 / 58卷 / 03期

关键词：

Trinucleotide repeat disorders; Fragile X syndrome; Myotonic dystrophy type 1; Spinocerebellar ataxia; Friedreich Ataxia and Huntington Disease; FRAGILE-X-SYNDROME; LARGE PATHOGENIC EXPANSIONS; MYOTONIC-DYSTROPHY; CAG-REPEAT; HUNTINGTONS-DISEASE; FRIEDREICHS-ATAXIA; TP-PCR; MUTATION; SCA2; DIAGNOSIS;

D O I：

10.1016/j.ejmg.2014.12.010

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Trinucleotide repeat disorders (TRDs) are a set of genetic disorders caused by trinucleotide repeat expansion in certain genes that exceed the normal, stable threshold, which varies from gene to gene. A dynamic mutation in a healthy gene may increase the repeat count and result in a defective gene. At present there are 14 pathogenic trinucleotide repeat disorders that are known to affect humans. The occurrence of these "triplet repeat diseases" within populations ranges from fairly common (Fragile X syndrome and Myotonic dystrophy type 1) to rare (Dentatorubral-pallidoluysian atrophy). In the present study we report a detailed scenario of TRDs in India mostly in respect to the 9 most common disorders namely; Fragile X syndrome, Myotonic dystrophy type 1, Spinocerebellar ataxia (type 1, 2, 3, 6 and 7), Friedreich Ataxia and Huntington Disease. (C) 2014 Elsevier Masson SAS. All rights reserved.

引用

页码：160 / 167

页数：8

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