DNA Diagnosis of Single Gene Disorders in Patients of Non-European Origin: Experience from Kuwait

Abstract

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. Genetic heterogeneity, mutations of Mediterranean, African and Arabic/Middle Eastern origin, and homozygosity by descent are characteristic of patients from Kuwait. Conclusions: More efforts aimed at the identification of mutations underlying genetic disorders in Kuwait as well as in other Gulf countries are warranted. This can be achieved by focusing genetic research in the academic institutions of Gulf countries towards this goal.

Novel Mutation in the CFTR Gene of Cystic Fibrosis Patients in Oman

“…The most prevalent mutations included 3120+1G>A, p.N1303K and c.1548delG [7]. In Kuwaiti population, 55% of the CF patients exhibited the delF508, G542N and p.W1282X while 24% of cases showed c.1548delG, c.I1234V and 3120+1G>A [15]. In another study, the 3120+1G>A was a rare mutation, been detected in 3 patients along with another patient having an additional mutation ∆F508 on the other allele [16].…”