Abstract
Twenty-six DNA samples from individuals either heterozygous or homozygous for beta thalassemia were analyzed by restriction endonuclease digestion, agarose gel electrophoresis, and Southern blot analysis to define DNA fragments containing portions or all of the beta globin gene. A total of twenty-seven genes affected by a beta thalassemia mutation and twenty-seven genes affected by a beta thalassemia mutation and twenty-two normal beta globin genes were examined in Italian, Greek, or Asian individuals. With all four restriction endonucleases used, the fragments generated from DNA of thalassemic individuals were identical to those found in DNA from normal. Thus, gross rearrangement or deletion within the genomic region containing the beta globin gene is not characteristic of mutations which cause a thalassemia. A third patient homozygous for pancellular hereditary persistence of fetal hemoglobin was shown to have complete deletion of the delta and beta globin genes.
References
May 1, 1979·Proceedings of the National Academy of Sciences of the United States of America·S H OrkinD G Nathan
Mar 15, 1979·Nature·P F LittleR Williamson
Jun 14, 1979·Nature·E F FritschT Maniatis
May 1, 1979·Cell·S H OrkinD G Nathan
Jun 11, 1979·Nucleic Acids Research·D TuanB G Forget
Jun 25, 1979·Nucleic Acids Research·R A FlavellR Williamson
Jul 1, 1979·Gene·R BernardsR A Flavell
Nov 10, 1979·Nucleic Acids Research·F RamirezA Bank
Dec 1, 1977·Cell·A J Jeffreys, R A Flavell
Sep 1, 1978·Cell·J G MearsA Bank
Sep 1, 1978·Cell·R A FlavellR Williamson
Dec 1, 1978·Cell·R M LawnT Maniatis
Sep 1, 1976·Nucleic Acids Research·N Blin, D W Stafford
May 15, 1975·Nature·Y W KanD Todd
Nov 5, 1975·Journal of Molecular Biology·E M Southern
Oct 4, 1974·Nature·S OttolenghiW H Boon
Apr 1, 1980·Cell·E F FritschT Maniatis
Aug 1, 1980·Cell·J A KantorA W Nienhuis
Citations
Jan 1, 1985·Immunogenetics·J P TingP Cresswell
Dec 20, 1982·Nucleic Acids Research·R A Spritz, S H Orkin
Oct 1, 1983·Cell·L C SkowS E Lewis
Mar 1, 1984·The Journal of Investigative Dermatology·S TajimaR E Kaufman