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Genetic background of Huntington disease in Croatia: Molecular analysis of CAG, CCG, and ?2642 (E2642del) polymorphisms
- Source :
- Human Mutation. 20:233-233
- Publication Year :
- 2002
- Publisher :
- Hindawi Limited, 2002.
-
Abstract
- 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
- Subjects :
- 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)
Subjects
Details
- ISSN :
- 10981004 and 10597794
- Volume :
- 20
- Database :
- OpenAIRE
- Journal :
- Human Mutation
- Accession number :
- edsair.doi.dedup.....e55b6e1ea6efac1d02154f79abfc7f5a