Molecular identification of glucose-6-phosphate dehydrogenase deficiency in Erbil Province Iraq, using PCR RFLP technique

الملخص EN

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common inherited human enzymopathy, characterized by clinical, biochemical, and molecular heterogeneity.

More than 400 million people have been affected worldwide.

In this study two mutations Mediterranean (563 C→T) and Chatham (1003 G→A) G6PD are studied at molecular bases.

A54 G6PD deficient patients and 10 normal Kurdish male samples are selected, and the DNA extracted from each peripheral blood samples using phenol-chloroform based method.

The quality and quantity of each DNA samples measured by Nanodrop 1000.

For identification of Mediterranean and Chathem mutation PCR/RFLP Technique was used in this study.

46 (85%) of 54 samples had G6PD Mediterranean (563 C→T) and 3 (5.5%) samples had G6PD Chathem (1003 G→A) mutation.

No mutations have been detected in normal samples in this study.

According to this study G6PD Mediterranean is the most frequent mutation in Erbil city like other provinces in Kurdistan and neighboring country among G6PD deficient individuals and the G6PD Chatham present in low frequency