Genetic background of Huntington disease in Croatia: Molecular analysis of CAG, CCG, and ?2642 (E2642del) polymorphisms
| Autor: | Dolores Janko, Jelena Vlašić, Silva Hećimović, Ingrid Škarpa-Prpić, Maja Relja, Jadranka Božikov, Dubravko Marković, Aleksandar Vojta, Nina Canki-Klain, Nataša Klepac, Krešimir Pavelić |
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| Rok vydání: | 2002 |
| Předmět: |
Genetics
congenital hereditary and neonatal diseases and abnormalities education.field_of_study Polymorphism Genetic Huntingtin Croatia Population Haplotype Prevalence Glutamic Acid DNA Disease Biology Huntington Disease Gene Frequency Haplotypes Trinucleotide Repeats Polymorphism (computer science) Humans Allele education Gene Alleles Genetics (clinical) |
| Zdroj: | Human Mutation. 20:233-233 |
| ISSN: | 1098-1004 1059-7794 |
| DOI: | 10.1002/humu.9055 |
| Popis: | This study presents the first molecular data on the basis and the origin of Huntington disease in Croatia and is the first such analysis performed among a Slavic population. We analyzed three trinucleotide polymorphisms in the HD gene: CAG, CCG and GAG Delta2642 (E2642del) triplets. Analysis of the CAG repeat size among 44 Huntington patients (39-66 CAGs) and 51 normal individuals (9-34 CAGs) showed that the range of the repeats was similar to previous findings. The frequency of the CCG and Delta2642 polymorphic alleles on N and HD chromosomes was found to correlate well with earlier reports for Western European populations. We found significance for both the CCG7 allele (p=0.004) and the Delta2642 allele (p |
| Databáze: | OpenAIRE |
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