β Thalassemia

studies of the molecular defect in the 'D' family

Haig Kazazian, R. J. Van Beneden, P. G. Snyder

Research output: Contribution to journalArticle

Abstract

There are at least six postulated β Thalassemic gene defects. These include (1) reduced transcription as a result of altered binding of RNA polymerase, (2) reduced excision of RNA from the precursor protein (heteronuclear RNA), (3) reduced 5' capping, (4) reduced polyadenylation addition, (5) reduced translation, and (6) nonsense mutation leading to premature termination. Study of the propositus, M.D., of the 'D' family showed a low β/d synthesis ratio (0.24) despite a clinically mild disease. Polypeptide assembly of β chains was as rapid as normals, and quantitation of β mRNA was 0.70 that of α mRNA, a value that is surprisingly high for the degree of β chain synthesis deficiency. Both parents had β thal trait. It is postulated from this data that M.D. had two different thalassemic genes. The first is β° Catania, in which normal amounts of untranslatable β mRNA are present. This could be associated with a nonsense mutation leading to premature termination of β chain synthesis or with defective capping of the 5' end of the β mRNA, (see 3 and 6 above). The second is a β +thal gene, which in heterozygotes usually results in decreased amounts of β mRNA to the degree observed here.

Original languageEnglish (US)
Pages (from-to)211-214
Number of pages4
JournalJohns Hopkins Medical Journal
Volume139
Issue number5
StatePublished - 1976

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Thalassemia
Messenger RNA
Nonsense Codon
Genes
Polyadenylation
RNA Precursors
DNA-Directed RNA Polymerases
Heterozygote
RNA
Peptides
Proteins

ASJC Scopus subject areas

  • Medicine(all)

Cite this

β Thalassemia : studies of the molecular defect in the 'D' family. / Kazazian, Haig; Van Beneden, R. J.; Snyder, P. G.

In: Johns Hopkins Medical Journal, Vol. 139, No. 5, 1976, p. 211-214.

Research output: Contribution to journalArticle

Kazazian, H, Van Beneden, RJ & Snyder, PG 1976, 'β Thalassemia: studies of the molecular defect in the 'D' family', Johns Hopkins Medical Journal, vol. 139, no. 5, pp. 211-214.
Kazazian, Haig ; Van Beneden, R. J. ; Snyder, P. G. / β Thalassemia : studies of the molecular defect in the 'D' family. In: Johns Hopkins Medical Journal. 1976 ; Vol. 139, No. 5. pp. 211-214.
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