Abstract |
A somatic mutation(s), acquired during the evolution of preleukemia in a 75-year-old Caucasian male of North European origin, resulted in a marked decrease in alpha-globin mRNA. The small amount of alpha-globin mRNA present in bone marrow cells was normally processed, had a normal (alpha 1/ alpha 2)-globin mRNA ratio, and was translated normally. No detectable zeta-globin mRNA was found. The alpha- and zeta-globin genes were both hypomethylated and restriction endonuclease maps of the alpha- and zeta-globin genes were comparable in the patient's marrow and fibroblast DNA. The data are most consistent with the acquisition of a mutation(s) that resulted in decreased expression of all four alpha-globin genes.
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Authors | N P Anagnou, T J Ley, B Chesbro, G Wright, C Kitchens, S Liebhaber, A W Nienhuis, A B Deisseroth |
Journal | Proceedings of the National Academy of Sciences of the United States of America
(Proc Natl Acad Sci U S A)
Vol. 80
Issue 19
Pg. 6051-5
(Oct 1983)
ISSN: 0027-8424 [Print] United States |
PMID | 6136971
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
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Chemical References |
- DNA, Recombinant
- RNA, Messenger
- Poly A
- Globins
- DNA Restriction Enzymes
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Topics |
- Aged
- Base Sequence
- DNA Restriction Enzymes
- DNA, Recombinant
- Genes
- Globins
(deficiency, genetics)
- Humans
- Male
- Nucleic Acid Hybridization
- Poly A
(genetics)
- Preleukemia
(complications, genetics)
- Protein Biosynthesis
- RNA, Messenger
(genetics)
- Thalassemia
(complications, genetics)
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