[Genetic analysis for Gaucher disease in two Iranian families]

ABSTRACT

Gaucher disease [GD] is one of the lysosomal storage disorders which inherited in an autosomal recessive mode. There is no data available from the incidence of the disease in Iran. The aim of the study was to determine the type of mutations and clinical information in Iranian patients. After detection of the mutations for the parents we performed prenatal diagnosis for the pregnancies at risk. The result of genetic analysis for two families was similar and indicated L444P mutation for both diagnoses. The result indicated that the two fetuses were normal for the disease and inherited L444P mutation in heterozygote status