caa a22 4500 469043989 CHVBK 20180323132818.0 cr unu---uuuuu 170328e19920101xx s 000 0 eng 10.1007/BF01800346 doi (NATIONALLICENCE)springer-10.1007/BF01800346 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 [Elektronische Daten] [G. Graham, P. MacLeod, D. Lillicrap, P. Bridge] Summary: Adrenoleukodystrophy is a severe, X-linked 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. SSIEM and Kluwer Academic Publishers, 1992 Graham G. Department of Paediatrics, Queen's University, K7L 3N6, Kingston, Ontario, Canada aut MacLeod P. Department of Paediatrics, Queen's University, K7L 3N6, Kingston, Ontario, Canada aut Lillicrap D. Department of Paediatrics, Queen's University, K7L 3N6, Kingston, Ontario, Canada aut Bridge P. Department of Paediatrics, Queen's University, K7L 3N6, Kingston, Ontario, Canada aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/1(1992-01-01), 68-74 0141-8955 15:1<68 1992 15 10545 https://doi.org/10.1007/BF01800346 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01800346 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Graham G. Department of Paediatrics, Queen's University, K7L 3N6, Kingston, Ontario, Canada aut NATIONALLICENCE 700 1- MacLeod P. Department of Paediatrics, Queen's University, K7L 3N6, Kingston, Ontario, Canada aut NATIONALLICENCE 700 1- Lillicrap D. Department of Paediatrics, Queen's University, K7L 3N6, Kingston, Ontario, Canada aut NATIONALLICENCE 700 1- Bridge P. Department of Paediatrics, Queen's University, K7L 3N6, Kingston, Ontario, Canada aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/1(1992-01-01), 68-74 0141-8955 15:1<68 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer