Analysis of glucocerebrosidase (GBA) gene mutations in Iranian patients with Gaucher disease.

ABSTRACT:

Objectives

Gaucher disease (GD) is the most common autosomal recessive disorder of glycolipid storage. It results from mutations in the glucocerebrosidase (GBA) gene and leads to GBA deficiency. Different mutations are associated with different phenotypes in the three major types of GD.

Materials and methods

The spectrum of mutations in GBA gene in 26 unrelated patients with GD from different Iranian populations was determined by DNA sequencing, polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP), and amplification-refractory mutation system (ARMS) methods. An in silico analysis was also performed for novel mutations.

Results

Six new mutations were identified in this study. The newly detected mutations that could be the

SUBMITTER: Mozafari H 

PROVIDER: S-EPMC8272556 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature