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

Astrid Milić,Nina Canki‐Klain-2005-08-01-PubMed
14

TL;DRAbstract

The present data, together with our previously published results, explain the frequency and the distribution of the 550delA mutation in Croatia by founder effect and genetic drift. Results of haplotype study are in favor of the hypothesis that 550delA is an old, rather than a recurrent mutation. The findings are important for effective diagnostic screening of CAPN3 gene in Croatia and neighboring countries, as well as for accurate genetic counseling.

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The present data, together with our previously published results, explain the frequency and the distribution of the 550delA mutation in Croatia by founder effect and genetic drift. Results of haplotype study are in favor of the hypothesis that 550delA is an old, rather than a recurrent mutation. The findings are important for effective diagnostic screening of CAPN3 gene in Croatia and neighboring countries, as well as for accurate genetic counseling.

Keywords

HaplotypeGeneticsBiologyMutationPolymerase chain reactionRestriction fragment length polymorphismAllele frequencyAllele

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