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CTG repeats at the myotonic protein kinase gene in a healthy Chilean population sample
Author(s) -
Amenabar F.,
Jorquera H.,
Acuña M.,
Cifuentes L.
Publication year - 2009
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.2008.01096.x
Subject(s) - myotonic dystrophy , allele , genetics , genotyping , gene , biology , allele frequency , trinucleotide repeat expansion , population , genotype , medicine , environmental health
Objectives – To study the variability at the myotonic dystrophy protein kinase (DMPK) gene in a Chilean sample of healthy people. DM1 is an autosomal dominant disorder caused by an expansion of a (CTG) repeat at the 3′‐UTR of the gene DMPK. Healthy individuals have alleles under 35 repeats and diseased individuals have over 50. Methods – Genotyping the number of (CTG) repeats at this gene in a sample of healthy Chilean people. Results – Allele frequencies were significantly different from those of other populations. The most frequent allele was with five repeats. The frequency of larger alleles (>18 CTG repeats) was 11%, close to the European frequency (12%) and higher than the Japanese (8%) and Aboriginal Pehuenche samples (8%). Conclusions – Allelic frequencies in the Chilean sample studied were intermediate between those of the two ancestral populations (European and Pehuenche).