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The spectrum of β-thalassemia mutations in northern and northeastern Thailand

✍ Scribed by Marion Laig; T. Sanguansermsri; S. Wiangnon; J. Hundrieser; M. Pape; G. Flatz

Publisher
Springer
Year
1989
Tongue
English
Weight
409 KB
Volume
84
Category
Article
ISSN
0340-6717

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✦ Synopsis

A total of 123 beta-thalassemia genes from northern (n = 113) and northeastern (n = 10) Thailand were examined. Using five oligonucleotide probes, the mutation in 108 genes (88%) was identified: 50 nonsense 17, 49 frameshift 41-42, 4-28(A----G), 2 IV1 nt5(G----C), 2IVS2 nt654, and 1 deletion removing the entire beta-globin gene. The nonsense 17 mutation (n = 39) was linked to a single haplotype, whereas the frameshift 41-42 mutation occurred with several haplotypes. The results of the present study indicate that prenatal diagnosis of clinically important beta-thalassemia syndromes using a limited set of oligonucleotides is feasible in approximately 80% of affected families in northern Thailand and most of the families with beta-thalassemia-Hb E disease in northeastern Thailand.

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Molecular basis of β-thalassemia in Thai
Molecular basis of β-thalassemia in Thailand: analysis of β-thalassemia mutations using the polymerase chain reaction
✍ Supan Fucharoen; Goonnapa Fucharoen; Winionman Sriroongrueng; Vichai Laosombat; 📂 Article 📅 1989 🏛 Springer 🌐 English ⚖ 730 KB

beta-Thalassemia mutations in 71 chromosomes of Thai patients from the northeast, the middle and the south of the country were investigated using dot blot hybridization of PCR (polymerase chain reaction)-amplified DNA with allele-specific oligonucleotide probes. Eight different known molecular defec