Diagnostic strategy of b-thalassemic mutation in a tunisian family, application in prenatal diagnosis

作者：Khelil AH^*; Laradi S; Ferchichi S; Carion N; Bejaoui M; Saad A; Chaieb A; Miled A; Ben Chibani J; Perrin P

来源：Annales de Biologie Clinique, 2003, 61(2): 229-233.

• hemoglobinopathie
• DGGE
• ARMS
• b-thalassemic mutation

At present, the application of combined methods in molecular biology allows us to carry out the prenatal diagnosis in a more rapid and less onerous manner especially when the family presents an index case. In this study, we have analyzed a family with one case of intermediate beta-thalassemia. First, we have used the denaturing gradient gel electrophoresis (DGGE). Then, we have identified the mutations by the refractory mutation system technique (ARMS PCR) using specific primers for the most frequent mutations in the Tunisian population (codon 39 (C --> T) and IVS-I-2 (T --> G) for beta(0) thalassemias and IVS-I-110 (G --> A) for beta(+) thalassemias). The analyzed family has shown the IVS-I-110 (G --> A) mutation in the heterozygous state in the mother and the index case. Subsequently, sequencing in the gene revealed a frameshift 8 (-AA) mutation in the father and his daughter. This patient is thus a compound heterozygote Codon 8 (-AA)/IVS-I-110. DGGE and ARMS PCR analysis of foetal DNA extracted from trophoblast culture didn't show any of the two mutations found in the family.

• 出版日期2003-4