Analysis of the beta-glucocerebrosidase gene in Turkish Gaucher disease patients: mutation profile and description of a novel mutant allele
Makaleler > Tam Makale · 2012
Yazarlar: Emin KARACA, Sema Kalkan, HÜSEYİN ONAY, Ayça AYKUT, Mahmut ÇOKER, Feriştah Ferda ÖZKINAY
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2012, cilt 25, ss 957-962
Özet
Gaucher disease (GD) is the most frequent autosomal recessive lysosomal glycolipid storage disorder characterized by a decreased lysosomal activity of the enzyme beta-glucocerebrosidase (GBA; EC 3.2.1.45). The aim of this study was to evaluate the spectrum of the GBA gene mutations in Turkish GD patients and to explore genotype/phenotype associations. The molecular characterization of 32 unrelated Turkish GD patients with three types of the disease was defined. Mutation analysis identified 96.9% of the GD alleles. The N370S mutation had the highest prevalence (50%) followed by the L444P (35.5%) alleles. We identified a novel L385R missense mutation that is associated with type 1 GD.