CTG repeats at the myotonic protein kinase gene in a healthy Chilean population sample.
OBJECTIVE
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).
Amenabar
F
F
Programa de Genética Humana, ICBM, Facultad de Medicina, Universidad de Chile.
Jorquera
H
H
Acuña
M
M
Cifuentes
L
L
D044466:Asian People / Q000235:genetics; D002677:Chile / Q000453:epidemiology / Q000208:ethnology; D025063:Chromosome Disorders / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics; D004252:DNA Mutational Analysis; D005006:Ethnicity / Q000235:genetics; D005787:Gene Frequency / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D018482:Muscle, Skeletal / Q000201:enzymology / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D009223:Myotonic Dystrophy / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012016:Reference Values; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*; D044465:White People / Q000235:genetics
C585517:DMPK protein, human; D005819:Genetic Markers; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases