TY - JOUR ID - TI - Molecular Detection of Some Mutations Associated with Βeta-Thalassaemia in Iraq AU - Massoud Houshmand AU - Ali A. Al-Zaag AU - Norrya A. Ali AU - Waleed K. Al-Murrani AU - Zuhair M. A. Jeddoa PY - 2008 VL - 2 no.4, 5 IS - 3 SP - 263 EP - 274 JO - Karbala Journal of Medicine مجلة كربلاء الطبية SN - 19905483 29580889 AB - the study was carried out in period between “1 August 2005 to 30 of December 2006”.Blood samples of 80 clinically thalassaemic patients were collected from three thalassaemiacenters in Iraq, namely: Ibn Albalady central thalassaemia center in Baghdad, and also fromKerbalaa and Al-Qadissya governorates. Blood samples were also collected from 56 apparentlyhealthy individuals to serve as a control group.DNA was isolated from blood and used for molecular detection of seven types of β-thalassaemiamutations (IVS1 nt.1 G--A , IVS1nt.5 G--C, IVS1 nt.6 T--C, IVS1 nt.110 G --A, codon 39 C--T,IVS2 nt.1G--A, and IVS2 nt.745 C--G) using the PCR based technique called ARMS(Amplification Refractory Mutation System).Five out of seven of these diagnosed mutations were reported for the first time in Iraq, and themost frequent β-thalassaemia mutations were codon 39 and IVS1 nt.110 with the proportions(26.76%) and (20.34%), respectively. No IVS2nt.745 was detected within the studied samples.Genotypic distribution of the samples indicated that there is no significant difference (p > 0.05)between the frequency of homozygotes and heterozygotes within patient group, while there is asignificant difference at (P < 0.01) in comparison with the control group.The study of association between the number and the types of mutations revealed that 28(58%) ofpositive cases have single mutation in a homozygous state or heterozygous state whichsignificantly associated at (P < 0.05) with β-thalassaemia mutations, whereas 20(42%) of thesecases have compound mutations. The most frequent association appeared between IVS1 nt.110 andCodon 39 mutations.Finally, mutations within families, pointed to a positive correlation between the types of mutationsin sons or daughters and their fathers and/or mothers; this indicates the accuracy of the ARMStechnique in detection of β-thalassaemia mutations. This conclusion should be taken with cautiondue to the limited number of families.

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