FREE NEJM E-TOC    HOME   |   SUBSCRIBE   |   CURRENT ISSUE   |   PAST ISSUES   |   COLLECTIONS   |   Search Term  Advanced Search

Sign in | Get NEJM's E-Mail Table of Contents — Free | Subscribe

Volume 302:185-188 January 24, 1980 Number 4 Next

	Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited PubMed Citation

Abstract

We used a restriction endonuclease to analyze the beta-thalassemia gene in Sardinia. When we digested human DNA with the restriction enzyme Bam HI, the beta-globin gene split into a 5' portion contained in a fragment of DNA 1.8 kb in length and a 3' portion in a fragment 9.3 kb in length. In some subjects, a variation in the nucleotide sequence affecting the site recognized by this enzyme on the 3' side of the beta-globin gene resulted in a different fragment, 22 kb in length, which contained the 3' portion of the beta-globin gene. In Sardinians without beta-thalassemia, the frequency of the 9.3-kb fragment was 0.67, and that of the 22-kb fragment was 0.33. In contrast, all the beta 0-thalassemia genes were associated exclusively with the 9.3-kb fragment. Thus, the beta 0-thalassemia lesion in Sardinians apparently arose on a chromosome that had the 9.3-kb Bam HI fragment. This observation can be used in prenatal diagnosis of beta 0-thalassemia in Sardina, since demonstration of the 22.0-kb fragment would indicate the normal beta-globin genotype and exclude the beta 0-thalassemia lesion on that chromosome. (N Engl J Med 302:185-188, 1980).

This article has been cited by other articles:

• Zhong, X.-b., Reynolds, R., Kidd, J. R., Kidd, K. K., Jenison, R., Marlar, R. A., Ward, D. C. (2003). Single-nucleotide polymorphism genotyping on optical thin-film biosensor chips. Proc. Natl. Acad. Sci. USA 100: 11559-11564 [Abstract] [Full Text]  
• Kerem, B, Rommens, J., Buchanan, J., Markiewicz, D, Cox, T., Chakravarti, A, Buchwald, M, Tsui, L. (1989). Identification of the cystic fibrosis gene: genetic analysis. Science 245: 1073-1080 [Abstract]  
• Old, J., Ayyub, H, Wood, W., Clegg, J., Weatherall, D. (1982). Linkage analysis of nondeletion hereditary persistence of fetal hemoglobin. Science 215: 981-982 [Abstract]  
• Kan, Y., Dozy, A. (1980). Evolution of the hemoglobin S and C genes in world populations. Science 209: 388-391 [Abstract]