Calpainopathy (LGMD2A) in Croatia: molecular and haplotype analysis.

Aim: To determine types and frequency of CAPN3 mutations in 29 unrelated Croatian families, analyzed during 6-year prospective and ongoing genetic and epidemiological study of muscular dystrophies in Croatia.

Methods: Mutation analysis included allele-specific polymerase chain reaction (PCR) or combination of PCR and restriction fragment length polymorphisms (RFLP) methods. Haplotype analysis was performed by PCR and DNA electrophoresis using 5 highly polymorphic markers flanking CAPN3 gene locus.

Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia.

Mutations in the calpain 3 (CAPN3) gene are responsible for limb-girdle muscular dystrophy (LGMD) type 2A. We report five causal mutations: 550delA, DeltaFWSAL, R541W, Y357X and R49H found on 45/50 of alleles studied in 25 unrelated families from Croatia. The 550delA mutation was present on 76% of CAPN3 chromosomes that led us to screen general population for this mutation; 532 random blood samples from three different regions were analyzed using allele-specific PCR.

Genetic background of Huntington disease in Croatia: Molecular analysis of CAG, CCG, and Delta2642 (E2642del) polymorphisms.

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.