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Science 17 April 1987:
Vol. 236. no. 4799, pp. 303 - 305
DOI: 10.1126/science.3563511
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Articles

Science, Vol 236, Issue 4799, 303-305
Copyright © 1987 by American Association for the Advancement of Science

articles

Identification and localization of mutations at the Lesch-Nyhan locus by ribonuclease A cleavage

RA Gibbs and CT Caskey

Many mutations leading to human disease are the result of single DNA base pair changes that cannot be identified by Southern analysis. This has prompted the development of alternative assays for point mutation detection. The recently described ribonuclease A cleavage procedure, with a polyuridylic acid-paper affinity chromatography step, has been used to identify the mutational lesions in the hypoxanthine phosphoribosyltransferase (HPRT) messenger RNAs of patients with Lesch-Nyhan syndrome. Distinctive ribonuclease A cleavage patterns were identified in messenger RNA from 5 of 14 Lesch-Nyhan patients who were chosen because no HPRT Southern or Northern blotting pattern changes had been found. This approach now allows HPRT mutation detection in 50 percent of the cases of Lesch-Nyhan syndrome. The polyuridylic acid-paper affinity procedure provides a general method for analysis of low abundance messenger RNAs.


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DNA diagnostics--molecular techniques and automation.
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Identification of germline and somatic mutations affecting the retinoblastoma gene.
J. Dunn, R. Phillips, A. Becker, and B. Gallie (1988)
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The human as an experimental system in molecular genetics.
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Science 240, 1483-1488
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Expression of the murine Duchenne muscular dystrophy gene in muscle and brain.
J. Chamberlain, J. Pearlman, D. Muzny, R. Gibbs, J. Ranier, C. Caskey, and A. Reeves (1988)
Science 239, 1416-1418
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Molecular genetics: applications to the clinical neurosciences.
J. Martin (1987)
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