Document Detail


Genetic background of Huntington disease in Croatia: Molecular analysis of CAG, CCG, and Delta2642 (E2642del) polymorphisms.
MedLine Citation:
PMID:  12204002     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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<0.001) among HD chromosomes. The CCG7 allele was overpresented among affected chromosomes (94.6%), but was also the most frequent CCG allele among normal chromosomes (66.7%). Interestingly, the Delta2642 allele was present on 40.5% HD chromosomes compared to only 9.8% of control chromosomes. Our results indicate that HD mutations in Croatia could be of the same origin as in Western populations and also support the multi-step hypothesis for generating new HD alleles. Similar frequencies and distributions of both the CCG and the Delta2642 polymorphisms in Croatia and Western European normal chromosomes indicate that the prevalence rate of HD in Croatia may be as high as in Western populations. Since we estimated a lower prevalence rate (1 : 100,000), we assume that there are still many misdiagnosed and/or unrecognized cases of Huntington disease in Croatia.
Authors:
Silva Hećimović; Natasa Klepac; Jelena Vlasić; Aleksandar Vojta; Dolores Janko; Ingrid Skarpa-Prpić; Nina Canki-Klain; Dubravko Marković; Jadranka Bozikov; Maja Relja; Kresimir Pavelić
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human mutation     Volume:  20     ISSN:  1098-1004     ISO Abbreviation:  Hum. Mutat.     Publication Date:  2002 Sep 
Date Detail:
Created Date:  2002-08-30     Completed Date:  2002-11-12     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9215429     Medline TA:  Hum Mutat     Country:  United States    
Other Details:
Languages:  eng     Pagination:  233     Citation Subset:  IM    
Copyright Information:
Copyright 2002 Wiley-Liss, Inc.
Affiliation:
Division of Molecular Medicine, Ruder Bosković Institute, Zagreb, Croatia. silva@icarus.wustl.edu
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MeSH Terms
Descriptor/Qualifier:
Alleles
Croatia
DNA / genetics
Gene Frequency
Glutamic Acid / genetics
Haplotypes
Humans
Huntington Disease / genetics*
Polymorphism, Genetic
Trinucleotide Repeats / genetics*
Chemical
Reg. No./Substance:
56-86-0/Glutamic Acid; 9007-49-2/DNA

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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