{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T16:36:54Z","timestamp":1781109414136,"version":"3.54.1"},"reference-count":0,"publisher":"National Academy of Sciences","issue":"15","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[1989,8]]},"abstract":"<jats:p>The mutations in X chromosome-linked diseases are frequently heterogeneous, and yet only a small fraction can be detected by Southern analysis. We therefore adapted the chemical cleavage method of Cotton et al. [Cotton, R. G. H., Rodrigues, N. R. &amp; Campbell, R. D. (1988) Proc. Natl. Acad. Sci. USA 85, 4397-4401] and the polymerase chain reaction to rapidly scan for point mutations in X chromosome-linked ornithine transcarbamoylase (carbamoyl-phosphate: L-ornithine carbamoyltransferase, EC 2.1.3.3.) deficiency. This simple heteroduplex mapping method identified different mismatch sites in polymerase chain reaction-amplified liver cDNA from five unrelated ornithine transcarbamoylase-deficient patients. The predicted sequence alteration was confirmed by DNA sequencing in all five patients and indicated a likely disease-causing mutation in four of these patients. In one atypical ornithine transcarbamoylase-deficient patient a sequence alteration compatible with a cDNA polymorphism was found. One family was studied in detail. Female-carrier detection was performed by chemical cleavage of amplified genomic DNA and verified by allele-specific oligonucleotide hybridization. This mutation scanning approach is simple, sensitive, and applicable to many genetic loci.<\/jats:p>","DOI":"10.1073\/pnas.86.15.5888","type":"journal-article","created":{"date-parts":[[2006,5,31]],"date-time":"2006-05-31T07:00:37Z","timestamp":1149058837000},"page":"5888-5892","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":86,"title":["Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage."],"prefix":"10.1073","volume":"86","author":[{"given":"M","family":"Grompe","sequence":"first","affiliation":[{"name":"Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D M","family":"Muzny","sequence":"additional","affiliation":[{"name":"Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C T","family":"Caskey","sequence":"additional","affiliation":[{"name":"Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[1989,8]]},"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.86.15.5888","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T12:39:00Z","timestamp":1649853540000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.86.15.5888"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,8]]},"references-count":0,"journal-issue":{"issue":"15","published-print":{"date-parts":[[1989,8]]}},"alternative-id":["10.1073\/pnas.86.15.5888"],"URL":"https:\/\/doi.org\/10.1073\/pnas.86.15.5888","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[1989,8]]},"assertion":[{"value":"1989-08-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}