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Carrier detection in X‐linked ocular albinism of the Nettleship‐Falls type by DNA analysis
Author(s) -
Bergan A. A. B.,
Schuurman L J. M.,
Born L. I.,
Samanns G.,
Dorp D. B.,
Pinckers A. J. L. G.,
Bakker E.,
Ommen G. J. B.,
Gal A.,
BleekerWagemakers E. M.
Publication year - 1992
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1992.tb03649.x
Subject(s) - albinism , genetics , genetic linkage , biology , restriction fragment length polymorphism , microbiology and biotechnology , hypopigmentation , gene , genotype
Bergen AAB, Schuurman EJM, van den Born LI, Samanns C, van Dorp DB, Pinckers AJLG, Bakker E, van Ommen GJB, Gal A, Bleeker‐Wage‐makers EM. Carrier detection in X‐linked ocular albinism of the Nettleship‐Falls type by DNA analysis. Clin Genet 1992: 41: 135–138. X‐linked ocular albinism (XOA) is characterized by anomalies of the eyes and hypopigmentation or absence of pigment in skin, hair and eyes due to a hereditary inborn error of metabolism affecting the pigment cells. The gene of XOA of the Nettleship‐Falls type (OAl) has been mapped to Xp22.3, and several closely linked RFLP loci have been identified. Linkage analysis and deletion mapping have established the marker gene order Xpter‐STS‐DX237‐(OA1,DXS 143.DXS85)‐DXS 16‐DXS43‐Xcen. Although the position of OAI has yet not been fully resolved, we report on the first carrier detections in XOA of the Nettleship‐Falls type by DNA analysis using markers which unquestionably flank OAI.