DNA diagnosis of single gene disorders in patients of non-European origin: experience from Kuwait.

Objective: The aim of this study was to establish genetic DNA-diagnostic service in Kuwait.

Methods: Polymerase chain reaction, restriction fragment length polymorphisms, heteroduplex analysis and DNA sequencing were applied.

Results: Direct testing for common mutations had variable success in Kuwaiti patients with different genetic disorders, and additional mutation analysis was required in many cases.

Glucose-6-phosphate dehydrogenase (G6PD) mutations and UDP-glucuronosyltransferase promoter polymorphism among G6PD deficient Kuwaitis.

Screening of 1,080 Kuwaiti male blood donors for glucose-6-phosphate dehydrogenase (G6PD) deficiency revealed this condition in 70 (6.5%) individuals. Mutation analysis of all 70 G6PD deficient samples performed by PCR/RFLP and direct sequencing identified the 563C-->T (Mediterranean) in 72.

Frequencies of SDF-1 chemokine, CCR-5, and CCR-2 chemokine receptor gene alleles conferring resistance to human immunodeficiency virus type 1 and AIDS in Kuwaitis.

The frequencies of three mutations conferring resistance to HIV/AIDS were determined in a population sample of native Kuwaitis. The CCR2-641, SDF1-3'A, and CCR5-m303 mutations were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) tests using restriction endonucleases Bsa BI, Msp I, and Hinc II, respectively. The frequency of the mutant alleles were: for CCR2-641, 0.

Population study of common glucose-6-phosphate dehydrogenase mutations in Kuwait.

DNA samples from 206 unrelated Kuwaitis of both sexes, i.e. 200 randomly selected individuals and 6 glucose-6-phosphate-dehydrogenase (G6PD)-deficient probands, have been analyzed by the PCR/RFLP technique for mutations underlying the most common G6PD-deficient variants (Mediterranean and A-).