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

To determine the founder of Indian myotonic dystrophy mutation, we have studied the expansion of CTG repeats in myotonin protein kinase gene and two intragenic linked loci Alu(ins) / Alu(del) and G/T intron 9 Hinf1 polymorphism in ten unrelated DM patients from eastern India. Out of these ten patien...

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Bibliographic Details
Published in:Human mutation 1999, Vol.13 (1), p.84-84
Main Authors: Basu, P., Gangopadhaya, P.K., Mukherjee, S.C., Sinha, K.K., Bhattacharyya, N.P.
Format: Article
Language:English
Subjects:
CTG expansion
Hinf1
India
polymorphism
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Summary:To determine the founder of Indian myotonic dystrophy mutation, we have studied the expansion of CTG repeats in myotonin protein kinase gene and two intragenic linked loci Alu(ins) / Alu(del) and G/T intron 9 Hinf1 polymorphism in ten unrelated DM patients from eastern India. Out of these ten patients, reconstruction of haplotype was possible for five patients unambiguously. In the other five cases, haplotype for the normal allele was assumed to be the most common haplotype found in normal individuals from Indian populations. Such analysis showed that in nine cases, the expansion of CTG repeats took place on Alu(ins)‐Hinf1‐2 background indicating common founder with other DM mutation published. However, in one case we observed a different haplotype [Alu(ins)‐Hinf1‐1] which could be a new mutation or due to admixture. © 1998 Wiley‐Liss, Inc.
ISSN:1059-7794
1098-1004
DOI:10.1002/(SICI)1098-1004(1999)13:1<84::AID-HUMU14>3.0.CO;2-X