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Cardiovascular Research 1997 36(2):134-137; doi:10.1016/S0008-6363(97)00027-8
© 1997 by European Society of Cardiology
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Copyright © 1997, European Society of Cardiology

On the trail of genetic culprits in Williams syndrome

Mark T Keating

Howard Hughes Medical Institute, University of Utah, Building 533, Salt Lake City, Utah 84112, USA

Received 1 July 1996; accepted 13 December 1996

KEYWORDS Genetics; Williams syndrome

The first 150 words of the full text of this article appear below.

In times past—in point of fact, not very long ago: only in the years after the genetic code was deciphered—the genetic basis of certain human diseases could only be extrapolated from knowledge of biochemical correlates. A critical enzyme was missing, for example, as in phenylketonuria, or a defective hemoglobin resulted in sickle-cell anemia. Determining the DNA sequence of a defective gene was a worthwhile exercise though, because if the basis for a disorder could be identified at the coding level, investigators might be able to devise novel approaches to prevention or treatment. But for hundreds, even thousands, of heritable disorders, not to speak of common and apparently sporadic illnesses, first causes remained mysterious; with no known protein culprit, then, how could the responsible (gene)s be discovered and the physiological consequences of mutations be evaluated?

One solution—‘molecular genetics’, a major advance in molecular biology, using recombinant DNA technology to map the . . . [Full Text of this Article]


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U. DeSilva, H. Massa, B. J. Trask, and E. D. Green
Comparative Mapping of the Region of Human Chromosome 7 Deleted in Williams Syndrome
Genome Res., May 1, 1999; 9(5): 428 - 436.
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