JP-3 gene polymorphism in a healthy population of Serbia and Montenegro.
J Genet
;
2005 Apr; 84(1): 69-71
Article
in English
| IMSEAR
| ID: sea-114207
ABSTRACT
Expansions of CTG repeats in JP-3 gene are associated with a phenotype similar to Huntington disease. These expansions are the cause of Huntington disease like-2 (HDL-2) phenotype. CTG repeats in JP-3 gene are polymorphic in healthy population. Analyses of CTG repeat polymorphism of JP-3 gene in various healthy populations could help in estimating the population at risk for developing HDL-2. CTG repeat polymorphism of JP-3 gene was analysed in healthy population of Serbia and Montenegro. Study included 198 unrelated subjects. Analyses of JP-3 locus were performed using PCR and sequencing. Six different JP-3 alleles were obtained and they were in the range of 11 to 18 CTG repeats showing a bimodal distribution, with peaks at 14 and 16. Results show that the distribution of JP-3 alleles in population of Serbia and Montenegro is consistent with distributions in other analysed populations. The absence of alleles with more then 18 CTG repeats suggests that HDL-2 is very rare in the populations of Serbia and Montenegro.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Polymorphism, Genetic
/
Yugoslavia
/
Female
/
Humans
/
Male
/
Huntington Disease
/
Trinucleotide Repeat Expansion
/
Genetic Predisposition to Disease
/
Genotype
/
Membrane Proteins
Language:
English
Journal:
J Genet
Year:
2005
Type:
Article
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