Murdoch University Research Repository

Welcome to the Murdoch University Research Repository

The Murdoch University Research Repository is an open access digital collection of research
created by Murdoch University staff, researchers and postgraduate students.

Learn more

A preliminary study of the spectrum of B-Globin gene mutations amount Thalassaemia patients in Iraq

Ai-Zahery, N., Edkins, E., Khoo, S-K, Hayden, C., Ismail, H., Semino, O., Le Souef, P., Goldblatt, J. and Bittles, A.H. (2008) A preliminary study of the spectrum of B-Globin gene mutations amount Thalassaemia patients in Iraq. In: International Conference on Medical and Community Genetics, 15 - 17 February, Chandigarh, India.

Abstract

Introduction: Although B-thalassaemia is one of the most common genetic disorders in Iraq with an estimated carrier prevalence of 4.6%, to date molecular data on the patterns of causative disease mutations have been very limited.

Objectives: To determine the spectrum of mutations present in patients clinicalty diagnosed with B-thalassaemia attending the lbnalbaldy Thalassemia Centre In Baghdad.

Methods: Blood samples were obtained from a group of 100 unrelated male and female patients aged 7-12 years. DNA was obtained by phenol/chloroform extraction and the l3-gtobin gene was amplified in three overlapping fragments using the polymerase chain reaction. followed by direct DNA sequencing in an ABI 3730x1 96-capillary automated DNA sequencers with Big Dye terminator chemistry

Results: Four mutations accounted for more than 80% of the thalassaemic chromosomes analysed: betas IVSII 1 G>A (HBB:c.315+1G>A), IVSI-1 10 (G->A) beta (HBB:c.93-21G>A), beta IVSI 6 bC (HBB:c.92+6T>C), and the frameshift mutation at CdS6/37 (—T) betaC (HBB:c.ll2detT). Each of these mutations is common in the Mediterranean region and among Arab populations.

Conclusion: These initial results indicate that analysis of DNA samples for the four common 13- globin gene mutations would provide good coverage for 13-thalassaemia carrier screening In the study population. However, given the ethnic sub-divisions in the Iraqi population, the strong tradition of marriage within clan and tribal boundaries, and an overall consanguineous marriage rate of 40-50%, it seems probable that more detailed community-specific studies will be required in the future.

Item Type: Conference Item
Murdoch Affiliation: Centre for Comparative Genomics
URI: http://researchrepository.murdoch.edu.au/id/eprint/10993
Item Control Page Item Control Page