Haplotype analysis of genomic polymorphisms in and around the myotonic dystrophy locus in diverse populations of India

Basu, Priyadarshi ; Majumder, Partha ; Roychoudhury, Susanta ; Bhattacharyya, Nitai (2001) Haplotype analysis of genomic polymorphisms in and around the myotonic dystrophy locus in diverse populations of India Human Genetics, 108 (4). pp. 310-317. ISSN 0340-6717

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Official URL: http://www.springerlink.com/index/0YYD3FWQG61T1G6D...

Related URL: http://dx.doi.org/10.1007/s004390100479

Abstract

The frequencies of haplotypes based upon the (CTG)n repeat and three other biallelic markers in and around the myotonic dystrophy (DM) locus were estimated in 13 ethnically, linguistically and geographically diverse sub-populations of India. The range of CTG repeats in caste populations was 5-31, while in tribal populations the range was shorter (5-23). Extensive variation in frequencies of large (CTG)n alleles (S18 repeats) was found in Indian populations. The implications of this finding on DM epidemiology are discussed. Haplotype diversity was found to be very high in most populations. The majority of the Indian DM patients carried a haplotype that is commonly found among DM patients globally; this is the most common haplotype in the class of large (≥18 repeats) CTG alleles. However, one haplotype was found to be present in particularly high frequency in Indian populations; this haplotype was also found among Indian DM patients. This haplotype may be a characteristic of Indian and possibly of other East Asian populations.

Item Type:Article
Source:Copyright of this article belongs to Springer.
Keywords:Ethnic Group; Linguistic Affiliation; Evolution; Epidermiology
ID Code:73387
Deposited On:03 Dec 2011 12:14
Last Modified:03 Dec 2011 12:14

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