BETA-THALASSEMIA DUE TO A T-]A MUTATION WITHIN THE ATA BOX

FEI, YJ; STOMING, TA; EFREMOV, GD; EFREMOV, DG; BATTACHARIA, R; GONZALEZREDONDO, JM; ALTAY, C; GURGEY, AYTEMİZ; HUISMAN, THJ

doi:10.1016/s0006-291x(88)81157-4

BETA-THALASSEMIA DUE TO A T-]A MUTATION WITHIN THE ATA BOX

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FEI Y., STOMING T., EFREMOV G., EFREMOV D., BATTACHARIA R., GONZALEZREDONDO J., ...More

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, no.2, pp.741-747, 1988 (SCI-Expanded)

Publication Type: Article / Article
Publication Date: 1988
Doi Number: 10.1016/s0006-291x(88)81157-4
Journal Name: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.741-747
Hacettepe University Affiliated: Yes

Abstract

Sequence analyses of amplified DNA from a Yugoslavian patient with Hb Lepore-.beta.-thalassemia and from his father with a simple .beta.-thalassemia trait have revealed a T .fwdarw. A mutation within the ATA box at a position 30 base pairs upstream from the Cap site. The nucleotide substitution was confirmed through dot-blot analysis of amplified DNA with specific 32P-labeled sythetic oligonucletoide probes. The patient had a clinically severe condition; his Hb Lepore-.beta.-thalassemi was of the .beta.+ type, as about 8-10% of the non-.alpha. chain was normal .beta.A. The same T .fwdarw. A mutation at nucleotide -30 was present on both chromosomes of a young Turkish patient who suffered from a thalassemia interemedia with a low level of Hb F (13.1%) and a relatively high .beta.A chain synthesis. These data are similar to those obtained for other types of .beta.+-thalassemia caused by comparable substitutions at positions 31, 29, and 28 base pairs upstream from the Cap site of the .beta.-globin gene.