Naslov
Genetic background of Huntington disease in Croatia: molecular analysis of CAG, CCG, and delta 642 (E2642del)polymorphisms

Autori
Hećimović, Silva ; Klepac, Nataša ; Vlašić, Jelena ; Vojta, Aleksandar ; Janko, Dolores ; Škarpa- Prpić, Ingrid ; Canki-Klain, Nina ; Marković, Dubravko ; Božikov, Jadranka ; Relja, Maja ; Pavelić, Krešimir

Izvornik
Human mutation (1059-7794) 20 (2002), 3; 233-241

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
CAG repeat ; trinucleotide expansion ; Huntington disease ; HD • IT15 • huntingtin ; polymorphism ; haplotype ; population analysis ; Croatian

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA