title: Expansion of CTG repeat in myotonin protein kinase gene on Alu(ins)-HinfI-I background in a myotonic dystrophy patient from India. Mutations in brief no. 210. Online.
abstract: 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 HinfI 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)-HinfI-2 background indicating common founder with other DM mutation published. However, in one case we observed a different haplotype [Alu(ins)-HinfI-1] which could be a new mutation or due to admixture.
authors: Crystallography and Molecular Biology Division Saha Institute of Nuclear Physics, 1/AF, Bidhan Nagar, Calcutta-700 064, India.
authors: P
authors: P
authors: Basu
authors: P K
authors: PK
authors: Gangopadhaya
authors: S C
authors: SC
authors: Murkherjee
authors: K K
authors: KK
authors: Sinha
authors: N P
authors: NP
authors: Bhattacharyya
mesh_terms: D015252:Deoxyribonucleases, Type II Site-Specific / Q000235:genetics; D006801:Humans; D007194:India; D007438:Introns / Q000235:genetics; D009223:Myotonic Dystrophy / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics; D018911:Trinucleotide Repeats / Q000235:genetics*
chemical_list: D017346:Protein Serine-Threonine Kinases; D015252:Deoxyribonucleases, Type II Site-Specific; C032229:GANTC-specific type II deoxyribonucleases