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

Abstract：

: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.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Das Bhowmik A,Rangaswamaiah S,Srinivas G,Dalal AB

doi

10.1016/j.ejmg.2014.12.010

subject

Has Abstract

pub_date

2015-03-01 00:00:00

pages

160-7

issue

3

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(14)00222-5

journal_volume

58

pub_type

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