| Autor: |
H H, Kazazian, C E, Dowling, P G, Waber, S Z, Huang, W H, Lo, A, Li, J W, Tam, J, Kang, S E, Antonarakis |
| Rok vydání: |
1987 |
| Předmět: |
|
| Zdroj: |
Progress in clinical and biological research. 251 |
| ISSN: |
0361-7742 |
| Popis: |
We have studied the spectrum of mutations producing beta-thalassemia (beta-thal) in South China and Southeast Asia in two groups of patients. In randomly selected patients with beta-thal major we characterized 78 beta-thal genes. In patients with beta-thal intermedia, 22 beta-thal genes were studied. The relevant mutation was characterized in all 78 genes of the first group, and 21 of 22 (96%) of mutant genes in the second group. Eight point mutations were found among the 100 genes studied. Of these eight alleles, four constituted 90% of the total. Prenatal diagnosis of beta-thalassemia in this region should be feasible by simplified techniques for direct detection of point mutations. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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