Naslov
High incidence of 550delA mutation in limb-girdle muscular dystrophy type 2A (LGMD 2A) in Croatia

Autori
Milić, Astrid ; Kovač, Biserka ; Leturcq, France ; Zurak, Niko ; Canki-Klain, Nina

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
European Journal of Human Genetics (1018-4813) 9 (2001), Suppl 1 ; 278 / - , 2001, 278-278

Mjesto i datum
,

Vrsta sudjelovanja
Poster

Vrsta recenzije
Nije recenziran

Ključne riječi
limb girdle muscular dystrophy; calpain 3; CAPN3 mutations

Sažetak
We report preliminary data concerning 28 LGMD2A patients from Croatias population of 4, 8 milion people. Sequence analysis of patients from six apparently non related families from a small rural community revealed homozygocity for a 550delA. Analysis of additional 4 families from different parts of the country revealed homozygous 550delA patients in two families, compound heterozygotes 550delA / Y537X in one family, and compound heterozygotes for a 550delA / one unknown mutation. These results motivated us to develop rapid screening method for 550delA. The fact that 550delA creates restriction site for Bsa AI enzyme was used to distinguish wild type PCR product (210bp) unchenged after the incubation with the enzyme, from mutated type (cut in two bands of 120 and 90bp). Application of this method on 28 patients from 18 families permitted us to identify: homozygous 550delA patients in 8 / 18 families ; compound heterozygotes 550delA in 7 / 18 families. Second mutated allele is not identified in 4 families. In five typical LGMD2A patients from 2 families both alleles are unknown. In conclusion our preliminary study shows that 550delA mutation accounts for 63, 8% (23 / 36) of CANP3 chromosomes.

Izvorni jezik
Engleski

Znanstvena područja
Farmacija

POVEZANOST RADA