Muthuswamy, S. and Agarwal, Sarita and Dalal, Ashwin (2013) Diagnosis and Genetic Counseling for Friedreich's Ataxia: A time for consideration of TP-PCR in an Indian Setup. Hippokratia, 17 (1). pp. 38-41. ISSN 1108-4189

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Abstract

Expansion of GAA triplet repeats in the first intron of the frataxin gene causes Friedreich's ataxia. Genetic testing in such condition is important to initiate the appropriate genetic counseling for the family members. The conventional genetic tests used in the diagnosis of Friedreich's ataxia are southern blot, short and long PCR. Recently, triplet repeat primed polymerase chain reaction (TP-PCR) methodology was described in the diagnosis of Friedreich's ataxia, especially for detection of long repeats. Accurate genetic diagnosis of Friedreich's ataxia helps in differentiating it from other ataxias and helps provide appropriate genetic counseling for such families. Extended family screening and genetic counseling can prevent birth of children with Friedreich's ataxia in these families.

Item Type:	Article
Additional Information:	[Open Access from PubMed Central] http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738275/?report=classic
Depositing User:	Users 2 not found.
Date Deposited:	24 Nov 2015 10:38
Last Modified:	24 Nov 2015 10:38
URI:	http://cdfd.sciencecentral.in/id/eprint/677

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