A new polymorphism in the human β-globin gene useful in antenatal diagnosis

M. C. Driscoll, M. Baird, A. Bank, E. A. Rachmilewitz

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

A new polymorphism in the β-globin gene is described, using the restriction enzyme Asu I. A radioactive probe specifically representing the large intervening sequence (IVS 2) of the β-globin gene has been used to detect this polymorphism. Normally, a 0.8-kilobase fragment containing β-IVS 2 is generated by Asu I; however, a 1.0-kilobase fragment is seen in association with 18% of β(A)-genes, and 38% of β-thalassemia genes in an Israeli population studied. By contrast, the Asu I polymorphism has rarely been seen in blacks examined to date. An additional Asu I change is seen a δ-IVS probe. The β-Asu I polymorphism is shown to be useful in the antenatal diagnosis of β-thalassemia.

Original languageEnglish (US)
Pages (from-to)915-919
Number of pages5
JournalJournal of Clinical Investigation
Volume68
Issue number4
StatePublished - 1981
Externally publishedYes

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Globins
Prenatal Diagnosis
Thalassemia
Genes
Introns
Enzymes
Population

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Driscoll, M. C., Baird, M., Bank, A., & Rachmilewitz, E. A. (1981). A new polymorphism in the human β-globin gene useful in antenatal diagnosis. Journal of Clinical Investigation, 68(4), 915-919.

A new polymorphism in the human β-globin gene useful in antenatal diagnosis. / Driscoll, M. C.; Baird, M.; Bank, A.; Rachmilewitz, E. A.

In: Journal of Clinical Investigation, Vol. 68, No. 4, 1981, p. 915-919.

Research output: Contribution to journalArticle

Driscoll, MC, Baird, M, Bank, A & Rachmilewitz, EA 1981, 'A new polymorphism in the human β-globin gene useful in antenatal diagnosis', Journal of Clinical Investigation, vol. 68, no. 4, pp. 915-919.
Driscoll, M. C. ; Baird, M. ; Bank, A. ; Rachmilewitz, E. A. / A new polymorphism in the human β-globin gene useful in antenatal diagnosis. In: Journal of Clinical Investigation. 1981 ; Vol. 68, No. 4. pp. 915-919.
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