engleski

Carrier frequency of 550 del A mutation of CAPN3 gene in Croatia.

Aim.To screen general population for 550delA mutation because our previous study showed that calpainopathy (LGMD2A) is the prevalent autosomal recessive muscular dystrophy in Croatia with high frequency of 550delA mutation (63, 8% ; 23/36 of CAPN3 chromosomes). Methods. We used allele specific PCR, which proved to be less time consuming then previously practiced PCR and restriction with BsaAI. Patients. 532 random blood samples (presenting 0, 012% of 4, 3 million people of Croatia) were collected from healthy blood donors from three different regions of Croatia. Results. Four healthy 550delA heterozygotes were found making whole frequency of 1 in 133 (4/532). When analysed by region, results were quite unequal.In 200 donors from capital city any carrier was found, as well as in small sample of 68 donors from north-west wide plain region. All 4 carriers were from sampling of 264 blood donors from islands and mountain region close to Adriatic sea. Conclusion. These data confirm that our population in general is rather closed with pronounced founder effect in some parts of the country that is very important to know for accurate genetic counseling and testing patients.

carrier frequency; CAPN3; 550delA; Croatia.

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