English abstract
The Oman Family study aimed to investigate genetic complex diseases in five highly consanguineous families from different villages in Nizwa. The majority of one of the families were found to have a peculiar ECG pattern with an irregularity in the heart rate (R-R interval) not described. Genotyping was performed for all members of the study and linkage analysis indicated a signal with a LOD score of 3.184 found on chromosome 3 in the P21-p13 region of the subjects showing the novel ECG pattern. A plausible candidate gene, SCN5A, encoding a voltage-gated sodium channel, located within the identified region of chromosome 3, was chosen for this study. Aim: Our study aimed to screen exons 22, 23, 25 and 28 of the SCN5A gene for mutations, SNPs and deletions related to the LQT-3 syndrome in the affected individuals (n=30) and compare them to age and gender matched controls (n=30) of the
Oman Family Study. Results: After aligning all samples sequences with their corresponding wild type references, no mutations, SNPs or deletions related to the LQT3 syndrome were . identified.
Conclusion: Despite that no mutations, SNPs or deletions related to the LQT3 syndrome
were identified, the SCNSA cannot be excluded as a candidate gene since only four out
of 28 exons were sequenced in this study.
