https://scholars.lib.ntu.edu.tw/handle/123456789/631572
Title: | DNA polymorphism haplotype analysis of beta-thalassemia genes in Taiwan | Authors: | TSANG-MING KO Hsu, P M FON-JOU HSIEH Lin, K H Lee, S C Lee, T Y |
Issue Date: | Feb-1989 | Journal Volume: | 88 | Journal Issue: | 2 | Source: | Taiwan yi xue hui za zhi. Journal of the Formosan Medical Association | Abstract: | Twenty unrelated families of homozygous beta-thalassemia were collected for restriction polymorphism haplotype study of the beta-thalassemia (beta T) genes. DNA was extracted from WBC of the family members. With Southern blotting and DNA hybridization, restriction fragment length polymorphisms (RFLPs) were studied at 7 sites within the beta-globin gene cluster, including 5' epsilon-HincII, G gamma-HindIII, A gamma-HindIII, psi beta-HincII,3' psi beta-HincII, beta-AvaII,3' beta-BamHI. From RFLPs of the family members, restriction polymorphism haplotypes of the 40 beta T chromosomes and the 40 normal beta-globin gene (beta A)-bearing chromosomes were constructed. In beta T chromosomes. 26 (65%) belonged to haplotype I (+----++), 12 (30%) to haplotype II (+-----+), 1 (2.5%) to haplotype III (-++-+-+) and 1 (2.5%) to haplotype IV (++---++) which has not been reported in Chinese before. In beta A chromosomes, 12 different haplotypes were found. Seven (17.5%) belonged to haplotype I, 13 (32.5%) to haplotype II, and 6 (15%) to haplotype V (+----+-). The implications of RFLP and haplotyping of beta T genes in terms of molecular defects and prenatal diagnosis are discussed. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/631572 | ISSN: | 0371-7682 |
Appears in Collections: | 醫學系 |
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