JP-3 gene polymorphism in a healthy population of Serbia and Montenegro
doi: 10.1007/bf02715892
pmid: 15876586
JP-3 gene polymorphism in a healthy population of Serbia and Montenegro
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.
- University of Belgrade Serbia
Male, Huntington Disease, Polymorphism, Genetic, Genotype, Yugoslavia, Humans, Membrane Proteins, Female, Genetic Predisposition to Disease, Trinucleotide Repeat Expansion
Male, Huntington Disease, Polymorphism, Genetic, Genotype, Yugoslavia, Humans, Membrane Proteins, Female, Genetic Predisposition to Disease, Trinucleotide Repeat Expansion
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