{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,8]],"date-time":"2025-09-08T05:35:17Z","timestamp":1757309717128},"reference-count":23,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[1991,3,21]],"date-time":"1991-03-21T00:00:00Z","timestamp":669513600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1992,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Adrenoleukodystrophy is a severe, X\u2010linked neurological disease that has been shown to be linked to DNA markers from Xq28. We tested several families with these markers and, in one family, found two apparent recombination events between DXS52 and the disease. Expansion of the study to include other tests and several others markers from Xq28 led us to conclude that recombination probably had not occurred and that, instead, the mutation in this family had a mitotic origin and that the grandmother was a gonadal mosaic. For genes that have been cloned, it is often possible to demonstrate the presence or absence of a specific mutation in such families and to determine carrier status on that basis. This is not possible when the gene has not been cloned. We therefore describe a method that can be employed by a molecular diagnostic laboratory to discriminate between people who inherit the same RFLP halpotype, with or without the mutation, from a parent with gonadal mosaicism in diseases where direct gene analysis is not yet possible.<\/jats:p>","DOI":"10.1007\/bf01800346","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T17:27:06Z","timestamp":1119374826000},"page":"68-74","source":"Crossref","is-referenced-by-count":13,"title":["Gonadal mosaicism in a family with adrenoleukodystrophy: Molecular diagnosis of carrier status among daughters of a gonadal mosaic when direct detection of the mutation is not possible"],"prefix":"10.1002","volume":"15","author":[{"given":"G. E.","family":"Graham","sequence":"first","affiliation":[{"name":"Department of Paediatrics Queen's University  Kingston Ontario K7L 3N6 Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. M.","family":"MacLeod","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Queen's University  Kingston Ontario K7L 3N6 Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. P.","family":"Lillicrap","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Queen's University  Kingston Ontario K7L 3N6 Canada"},{"name":"Department of Pathology Queen's University  Kingston Ontario K7L 3N6 Canada"},{"name":"DNA Diagnostic Laboratory Kingston General Hospital  Kingston Ontario K7L 2V7 Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. J.","family":"Bridge","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Queen's University  Kingston Ontario K7L 3N6 Canada"},{"name":"Department of Pathology Queen's University  Kingston Ontario K7L 3N6 Canada"},{"name":"DNA Diagnostic Laboratory Kingston General Hospital  Kingston Ontario K7L 2V7 Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1991,3,21]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410210406"},{"key":"e_1_2_1_3_1","first-page":"408","article-title":"Frequent alterations of visual pigment genes in adrenoleukodystrophy","volume":"42","author":"Aubourg P. R.","year":"1988","journal-title":"Am. J. Hum. 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