Expansion of CTG repeat in myotonin protein kinase gene on Alu(ins)-Hinf1-1 background in a myotonic dystrophy patient from India

Basu, P.; Gangopadhaya, Prasanta K.; Mukherjee, Subhas; Sinha, Krishna K.; Bhattacharyya, Nitai P.

doi:10.1002/(sici)1098-1004(1999)13:1<84::aid-humu14>3.0.co;2-x

Cited by 5 publications

(2 citation statements)

References 3 publications

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“…This haplotype is in complete linkage disequilibrium with DM chromosomes in Caucasian populations (Neville et al 1994;Goldman et al 1996). Combining the data reported in Basu et al (1999) and Basu et al (2000), we found that in a set of 30 unrelated DM patients the expanded allele was on the (+ + +) background in 27 (90%) individuals. However, in 3 (10%) individuals, the expanded allele was on the (+ --) background.…”

Section: Variation In Haplotype Frequencies and Related Resultsmentioning

confidence: 57%

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

et al. 2001

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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 (> or =18 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 (> or =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.

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Section: Variation In Haplotype Frequencies and Related Resultsmentioning

confidence: 57%

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

et al. 2001

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“…There are published reports from India describing clinical and genetic aspects. Recent studies focus on studying polymorphisms in relation to the CTG repeat size variation and other polymorphic loci adjacent to the MPK gene (Basu et al, 1999;Basu et al, 200 I). Molecular analysis was carried out in ten unrelated DM patients from eastern India using the expansion of CTG repeats in the MPK gene and two intragenic linked loci Alu(ins)/ Alu(del) and GIT intron 9 Hinfl polymorphism (Basu et aI., 2000b).…”

Section: Myotonic Dystrophymentioning

confidence: 99%