A new TATA box mutation detected at prenatal diagnosis for beta-thalassemia.
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.
Cai
S P
SP
Department of Medicine, University of California, San Francisco 94143-0724.
Zhang
J Z
JZ
Doherty
M
M
Kan
Y W
YW
D000649:Amniocentesis; D001483:Base Sequence; D005260:Female; D005796:Genes; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011401:Promoter Regions, Genetic; D013789:Thalassemia / Q000097:blood / Q000175:diagnosis / Q000235:genetics*
D005914:Globins