Haplotype analysis of the DM1 locus in the Serbian population.

Abstract:

OBJECTIVES:Analysis of the CTG-repeat number and three biallelic markers, Alu(+/-), HinfI(+/-), and TaqI(+/-), in the DMPK gene in healthy and myotonic dystrophy type 1 (DM1) Serbian individuals. Also, the consideration of haplotypes in the light of the proposed models of CTG-repeat evolution and origin of the DM1 mutation. MATERIALS AND METHODS:Markers were analyzed by PCR and haplotypes were obtained on 203 unrelated normal chromosomes and 24 unrelated DM1 chromosomes. RESULTS:A strong linkage disequilibrium was detected between the three biallelic markers alone (P <0.0001) and between distinct CTG-repeat size classes and reconstructed haplotypes. Greater than 98% of normal chromosomes contain (+++) and (- - -) haplotypes. The (+++) haplotype is the most common, while the (CTG)(9-17) are the most frequent alleles. We found a complete association of (+++) haplotype with (CTG)(> or =18) and mutated alleles. CONCLUSIONS:(CTG)(9-17)/(+++) haplotype is the ancestral haplotype and DM1 mutation occurred on (CTG)(18-35)/+++ chromosome.

journal_name

Acta Neurol Scand

authors

Krndija D,Savić D,Mladenović J,Rakocević-Stojanović V,Apostolski S,Todorović S,Romac S

doi

10.1111/j.1600-0404.2005.00402.x

subject

Has Abstract

pub_date

2005-04-01 00:00:00

pages

274-7

issue

4

eissn

0001-6314

issn

1600-0404

pii

ANE402

journal_volume

111

pub_type

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