Analysis of the ß-glucocerebrosidase gene in Turkish Gaucher disease patients: Mutation profile and description of a novel mutant allele
Küçük Resim Yok
Tarih
2012
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Gaucher disease (GD) is the most frequent autosomal recessive lysosomal glycolipid storage disorder characterized by a decreased lysosomal activity of the enzyme ß-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.
Açıklama
Anahtar Kelimeler
ß-glucocerebrosidase gene, Gaucher disease, Turkish population
Kaynak
Journal of Pediatric Endocrinology and Metabolism
WoS Q Değeri
Scopus Q Değeri
Q2
Cilt
25
Sayı
09.Oct
