Molecular analysis of the G6PD-Mediterranean mutation in Kuwait

Glucose-6-phosphate dehydrogenase [G6PD] deficiency has been reported to be quite common in Kuwait, though neither the underlying biochemical variants nor the mutations involved have ever been analyzed. The 563C-T mutation underlies one of the most common G6PD-deficient variants, G6PDMed. It is observed on two different haplotypes [Mediterranean and Asian], as judged by a 1311C -T polymorphism. The objective of this study was a population and haplotype analysis of the 563C-T mutation in Kuwait. DNA was extracted from the peripheral blood of 110 unrelated individuals [population group] and 20 family members of G6PDMed-positive probands. The population group comprises native Kuwaitis and Bedouins residing in Kuwait [63 males and 47 females]. Detection of both 563C -T and 1311C -T was carried out by using the PCR/RFLP technique. Seven individuals [4 hemizygotes, 2 heterozygotes and 1 homozygote] were identified in the population group, giving a G6PDMed frequency of 0.0509 [0.0635 for males and 0.0425 for females]. Haplotype analysis of the G6PDMed chromosomes was informative for all cases except for 1 heterozygous female. Of the 7 unrelated G6PDMed chromosomes from Kuwait, 6 had the Mediterranean and 1 had the Asian haplotype

Kuwaiti patient with osteopetrosis, renal tubular acidosis and cerebral Calcification is homozygous for a splice junction mutation in the carbonic anhydrase gene

Osteopetrosis, with renal tubular acidosis and cerebral calcification [ORTACC], is a rare genetic disorder caused by mutations in the carbonic anhydrase II [CAII] gene. Several CAII mutations have been reported, including a splice junction mutation in intron 2 in Arab patients from the Middle East and North Africa. Herein, we present our PCR/RFLP protocol for the diagnosis of this Arabic mutation and report its detection in a Kuwait patient with ORTACC