A new TATA box mutation detected at prenatal diagnosis for beta-thalassemia
S P Cai1, J Z Zhang, M Doherty
1Department of Medicine, University of California, San Francisco 94143-0724.
American Journal of Human Genetics
|July 1, 1989
Abstract:
During the course of prenatal diagnosis for beta-thalassemia in Chinese patients, we encountered a mutation that was not detectable by oligonucleotides for the known Chinese mutations. Amplification of the beta-globin gene by the polymerase chain reaction and direct DNA sequencing revealed a previously undescribed -30 TATA box mutation which was carried by the father. Prenatal diagnosis was achieved, and the fetus did not inherit this beta-thalassemia allele.
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