LGMD2A gaixotasunaren diagnostiko molekularra

Abstract

Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive disorder caused by mutations in the CAPN3 gene. This gene encodes a protein expressed in skeletal muscle called calpain 3. In the present work we performed the molecular diagnosis of LGMD2A patients and we applied MLPA analysis for the detection of genomic rearrangements. This technique was efficient in identifying four different deletions. Based on our results we propose an algorithm for the molecular diagnosis of LGMD2A.; 2A motako gerrietako muskulu-distrofia (LGMD2A) CAPN3 geneko mutazioen ondorio den gaixotasun autosomiko azpirakorra da. CAPN3 geneak muskulu eskeletikoan adierazten den kalpaina 3 proteina kodetzen du. Ikerlan honetan, LGMD2A gaixoen diagnostiko molekularra egin da eta MLPA erabili da berrordenatze posibleak identifikatzeko. Teknika horri esker lau delezio mota identifikatu dira. Gure emaitzetan oinarrituz, LGMD2A gaixotasunaren diagnostiko molekularra egiteko algoritmo bat proposatzen dugu.