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North and South Indian populations share a common ancestral origin of Friedreich's ataxia but vary in age of GAA repeat expansion.
Ann Hum Genet. 2010 May; 74(3):202-10.AH

Abstract

Friedreich's ataxia (FRDA) is caused by expansion of GAA repeats in the frataxin (FXN) gene on chromosome 9q13-q21.1. We analysed the origin of FRDA in 21 North Indian (NI) and eight South Indian (SI) families using five single nucleotide polymorphisms (SNPs) and a microsatellite marker spanning the GAA repeats. The NI and SI families were derived from Indo-European and Dravidian linguistic backgrounds respectively. The frequency of large normal (LNs) alleles of the GAA repeat correlate with the overall lower prevalence of FRDA in India compared to the European population. All of the expanded alleles in the Indian population share a common core haplotype suggesting a founder effect. The expanded alleles in the NI population demonstrate more similarity to those of Europeans in terms of age of GAA repeat expansion (15975 +/- 2850 years) and association of LNs with expanded alleles. FRDA seems to have been introduced recently in the South Indian population since the average estimated age of the mutation in SI is 5425 +/- 1750 years and unlike NI some of the haplotypes of LNs are not associated with the expanded alleles.

Authors+Show Affiliations

Neuroscience Centre, All India Institute of Medical Sciences, New Delhi, India.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

20374234

Citation

Singh, Inder, et al. "North and South Indian Populations Share a Common Ancestral Origin of Friedreich's Ataxia but Vary in Age of GAA Repeat Expansion." Annals of Human Genetics, vol. 74, no. 3, 2010, pp. 202-10.
Singh I, Faruq M, Mukherjee O, et al. North and South Indian populations share a common ancestral origin of Friedreich's ataxia but vary in age of GAA repeat expansion. Ann Hum Genet. 2010;74(3):202-10.
Singh, I., Faruq, M., Mukherjee, O., Jain, S., Pal, P. K., Srivastav, M. V., Behari, M., Srivastava, A. K., & Mukerji, M. (2010). North and South Indian populations share a common ancestral origin of Friedreich's ataxia but vary in age of GAA repeat expansion. Annals of Human Genetics, 74(3), 202-10. https://doi.org/10.1111/j.1469-1809.2010.00569.x
Singh I, et al. North and South Indian Populations Share a Common Ancestral Origin of Friedreich's Ataxia but Vary in Age of GAA Repeat Expansion. Ann Hum Genet. 2010;74(3):202-10. PubMed PMID: 20374234.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - North and South Indian populations share a common ancestral origin of Friedreich's ataxia but vary in age of GAA repeat expansion. AU - Singh,Inder, AU - Faruq,Mohammed, AU - Mukherjee,Odity, AU - Jain,Sanjeev, AU - Pal,Pramod Kumar, AU - Srivastav,M V Padma, AU - Behari,Madhuri, AU - Srivastava,Achal K, AU - Mukerji,Mitali, Y1 - 2010/03/31/ PY - 2010/4/9/entrez PY - 2010/4/9/pubmed PY - 2010/6/25/medline SP - 202 EP - 10 JF - Annals of human genetics JO - Ann Hum Genet VL - 74 IS - 3 N2 - Friedreich's ataxia (FRDA) is caused by expansion of GAA repeats in the frataxin (FXN) gene on chromosome 9q13-q21.1. We analysed the origin of FRDA in 21 North Indian (NI) and eight South Indian (SI) families using five single nucleotide polymorphisms (SNPs) and a microsatellite marker spanning the GAA repeats. The NI and SI families were derived from Indo-European and Dravidian linguistic backgrounds respectively. The frequency of large normal (LNs) alleles of the GAA repeat correlate with the overall lower prevalence of FRDA in India compared to the European population. All of the expanded alleles in the Indian population share a common core haplotype suggesting a founder effect. The expanded alleles in the NI population demonstrate more similarity to those of Europeans in terms of age of GAA repeat expansion (15975 +/- 2850 years) and association of LNs with expanded alleles. FRDA seems to have been introduced recently in the South Indian population since the average estimated age of the mutation in SI is 5425 +/- 1750 years and unlike NI some of the haplotypes of LNs are not associated with the expanded alleles. SN - 1469-1809 UR - https://www.unboundmedicine.com/medline/citation/20374234/North_and_South_Indian_populations_share_a_common_ancestral_origin_of_Friedreich's_ataxia_but_vary_in_age_of_GAA_repeat_expansion_ L2 - https://doi.org/10.1111/j.1469-1809.2010.00569.x DB - PRIME DP - Unbound Medicine ER -