{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T16:00:54Z","timestamp":1770480054606,"version":"3.49.0"},"reference-count":14,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"4799","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Science"],"published-print":{"date-parts":[[1987,4,17]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1126\/science.3563511","type":"journal-article","created":{"date-parts":[[2006,10,5]],"date-time":"2006-10-05T20:28:58Z","timestamp":1160080138000},"page":"303-305","source":"Crossref","is-referenced-by-count":105,"title":["Identification and Localization of Mutations at the Lesch-Nyhan Locus by Ribonuclease A Cleavage"],"prefix":"10.1126","volume":"236","author":[{"given":"Richard A.","family":"Gibbs","sequence":"first","affiliation":[{"name":"Department of Molecular Genetics, Howard Hughes Medical Institute, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. Thomas","family":"Caskey","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics, Howard Hughes Medical Institute, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"221","reference":[{"key":"e_1_2_1_1_1","doi-asserted-by":"crossref","first-page":"9593","DOI":"10.1016\/S0021-9258(17)44533-9","volume":"258","year":"1983","unstructured":"BRENNAND, J, EXPRESSION OF HUMAN AND CHINESE-HAMSTER HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE CDNA RECOMBINANTS IN CULTURED LESCH-NYHAN AND CHINESE-HAMSTER FIBROBLASTS, JOURNAL OF BIOLOGICAL CHEMISTRY 258: 9593 (1983).","journal-title":"JOURNAL OF BIOLOGICAL CHEMISTRY"},{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi00591a005"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.81.7.1991"},{"key":"e_1_2_1_4_1","first-page":"1010","year":"1978","unstructured":"KELLEY, W.N., METABOLIC BASIS INHE: 1010 (1978).","journal-title":"METABOLIC BASIS INHE"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(64)90104-4"},{"key":"e_1_2_1_6_1","unstructured":"Mead D. 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