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Molecular Defects In The Β-Globin Gene Identified In Different Ethnic Groups/Populations During Prenatal Diagnosis For Β-Thalassemia: A Malaysian Experience, Maryanne Tan
Mary Anne Tan Jin Ai
β-thalassemia is the most-common genetic disorder of hemoglobin synthesis in Malaysia, and about 4.5% of the population are heterozygous carriers of the disorder. Prenatal diagnosis was performed for 96 couples using the Amplification Refractory Mutation System and Gap- Polymerase Chain Reaction. We identified 17 β-globin defects-initiation codon for translation (T-G), -29 (A-G), - 28 (A-G), CAP +1 (A-C), CD 8/9 (+G), CD 15 (G-A), CD 17 (A-T), CD 19 (A-G), Hb E (G-A), IVS1-1 (G-T), IVS1- 5 (G-C), CD 41/42 (-CTTT), CD 71–72 (+A), IVS2-654 (CT), poly A(A-G), 100-kb Gγ(Aγδβ)° and 45-kb Filipino deletions. The 192 β-alleles studied comprised Chinese …