Diversity of sequence haplotypes associated with beta-thalassaemia mutations in Algeria: implications for their origin

Gene
P PerrinG Trabuchet

Abstract

We report the allelic sequence polymorphism associated with seven beta-thalassaemia mutations. Thirty-two DNAs originating from Algeria and 12 DNAs from Sardinia and Sicily were investigated. Their analysis revealed an association with a unique haplotype for three beta-thalassaemia mutations (-29, IVS-I-2 and IVS-I-1). It seems clear that these mutations have a unicentric origin. The presence of the -29 mutation could be explained by migration and founding effect. However, the local origin of IVS-I-2 seems clear. The four other mutations, FS6, IVS-I-6, IVS-I-110 and stop39 were found to be associated with at least two different sequence haplotypes. The likelihood of so many recurrent nucleotide dimorphisms in different lineages as a consequence of random mutation is very low; it is supported neither by the analysis of equivalent regions in other primates, nor by the presence of highly mutable sites such as CpG dinucleotides. The fact that these mutations are found exclusively in the Mediterranean area is not in favour of a recurrent origin of the mutation. The diversity is far more important for the preponderant thalassaemia mutations of the Mediterranean area and is higher in the 5' part of the beta-globin gene. Hence, the IVS...Continue Reading

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Citations

Dec 12, 2012·Journal of Community Genetics·Hanan A Hamamy, Nasir A S Al-Allawi
Jan 22, 2004·Clinica Chimica Acta; International Journal of Clinical Chemistry·Amel Haj KhelilPascale Perrin
Jan 15, 2009·Blood Cells, Molecules & Diseases·Zohreh RahimiAbbas Parsian
Feb 12, 2009·Hemoglobin·Nassima Boudrahem-AddourCherif Beldjord
Jul 7, 2017·American Journal of Physical Anthropology·Claudia ViganóAbigail Bouwman
Apr 12, 2018·Hematology·Hossam MuradRami A Jarjour
Jan 24, 2019·Hemoglobin·Hossam MuradYasser Mukhalalaty
Feb 2, 2010·Hemoglobin·Amel Haj KhelilPascale Perrin
Mar 8, 2000·American Journal of Hematology·G O TadmouriA N Başak

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