title: JP-3 gene polymorphism in a healthy population of Serbia and Montenegro.
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.
authors.affiliation: Faculty of Biology, University of Belgrade, Studentski trg 16, P.O. Box 52, Belgrade 11000, Serbia and Montenegro.
authors.forename: M
authors.initials: M
authors.lastname: Keckarević
authors.forename: D
authors.initials: D
authors.lastname: Savić
authors.forename: S
authors.initials: S
authors.lastname: Romac
mesh_terms: D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D006816:Huntington Disease / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D019680:Trinucleotide Repeat Expansion; D015022:Yugoslavia
chemical_list: D008565:Membrane Proteins; C412507:junctophilin