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CTG repeat polymorphism in DMPK gene in healthy Yugoslav population
B Culjković1, O Stojković, S Vukosavić
1Faculty of Biology, University of Belgrade, Belgrade, Yugoslavia.
Acta Neurologica Scandinavica
|March 21, 2002
Summary
The study investigated the frequency of cytosine-thymine-guanine (CTG)-repeat alleles in the myotonic dystrophy protein kinase (DMPK) gene in a healthy Yugoslav population. A high prevalence of large normal alleles suggests myotonic dystrophy type 1 (DM1) rates similar to other European populations.
Area of Science:
- Genetics
- Molecular Biology
- Neurology
Background:
- Myotonic dystrophy type 1 (DM1) is linked to expanded cytosine-thymine-guanine (CTG)-repeats in the myotonic dystrophy protein kinase (DMPK) gene.
- The origin of expanded alleles is hypothesized to stem from large normal alleles.
- A correlation between large normal allele frequency and DM1 prevalence is expected.
Purpose of the Study:
- To determine the distribution of DMPK gene alleles in a healthy Yugoslav population.
- To assess the frequency of large normal alleles in this cohort.
- To infer potential DM1 prevalence based on allele distribution.
Main Methods:
- Genotyping of the DMPK locus in 235 healthy individuals of Yugoslav origin.
- Analysis of allele size distribution, specifically focusing on repeat numbers.
Main Results:
- Identified 22 distinct alleles for the DMPK gene, with repeat sizes ranging from 5 to 29.
- Observed that 8.72% of the 470 studied chromosomes carried more than 18 CTG-repeats.
Conclusions:
- The study found a relatively high frequency of large-sized normal alleles in the Yugoslav population.
- This suggests that the prevalence of myotonic dystrophy type 1 (DM1) in Yugoslavia is likely comparable to that in other European populations.