DNA Polymorphism of Gaucher Disease in Iraqi Patients

Abstract

Gaucher disease is the autosomally recessively inherited deficiency of the lysosomal enzyme glucocerebrosidase. Increasing storage of glucocerebrosides leads to a multisystem disease, the prevalence of which is about 1 : 40,000 in central Europe and up to 1 : 2,000 in some other countries (e. g. Israel). The acute and chronic neuronopathic forms of the disease (formerly defined as Gaucher types 2 and 3) account for only 5 to 10% of all Gaucher patients in Central Europe and Germany and are thus less frequent than the nonneuronopathic disease (formerly defined as Gaucher type 1). Gaucher's disease is usually associated with splenoand hepatomegaly, fatigue, skeletal complications, and several corresponding hematological and laboratory abnormalities. In 5 to 10% of the patients there are also central nervous symptoms such as myoclonic seizures, oculomotoric apraxia and a slight mental retardation. Recent epidemiological data indicate that only 10 to 20% of all Gaucher patients are correctly diagnosed (and treated) in Germany. The diagnosis today can be done in all patients by noninvasive methods, i. e. determination of the glucocerebrosidase activity in peripheral leukocytes and of the genetic defect, in this research the PCR technique was used to analyze the mutation in glucocerebrosidases gene (G ---C). Key words: Gaucher disease (GD), lysosomal storage disorder (LSD),lysosomal enzyme glucocerebrosidase, PCR, Mutation.