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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., (Copyright 2005 S. Karger AG, Basel.)

Two genes are known to be involved in spinal muscular atrophy (SMA), namely, SMN (survival motor neuron) and NAIP (neuronal apoptosis inhibitory protein). Deletion analysis of these genes has been reported for many ethnic groups. We have extended this analysis to include 15 Arabic patients (11 unrelated cases of type I, which represent practically all of the patients diagnosed within the last 2 years in Kuwait, and 4 type-II cases from a single kinship). Also, 41 healthy relatives (parents and sibs) and 44 control individuals of Arabic origin were analyzed. The homozygous deletions of exons 7 and 8 of the SMN gene were found in all SMA patients studied. Exon 5 of NAIP was homozygously absent in all type-I patients, but was retained in type-II cases. Among members of SMA families, one mother was found to be homozygously deleted for NAIP. All of the control individuals had both normal SMN and NAIP. Our results are in agreement with the general consensus that the incidence of NAIP deletion is higher in the more severe SMA cases. Furthermore, they suggest that SMA type-I chromosomes, with the dual deletion of the SMN and NAIP genes, are more common in Arabs than in patients of other ethnic origin.