CARRIER DETECTION IN X-LINKED OCULAR ALBINISM OF THE NETTLESHIP-FALLSTYPE BY DNA ANALYSIS

Citation
Aab. Bergen et al., CARRIER DETECTION IN X-LINKED OCULAR ALBINISM OF THE NETTLESHIP-FALLSTYPE BY DNA ANALYSIS, Clinical genetics, 41(3), 1992, pp. 135-138
Citations number
18
Journal title
ISSN journal
00099163
Volume
41
Issue
3
Year of publication
1992
Pages
135 - 138
Database
ISI
SICI code
0009-9163(1992)41:3<135:CDIXOA>2.0.ZU;2-Q
Abstract
X-linked ocular albinism (XOA) is characterized by anomalies of the ey es and hypopigmentation or absence of pigment in skin, hair and eyes d ue to a hereditary inborn error of metabolism affecting the pigment ce lls. The gene of XOA of the Nettleship-Falls type (OA1) has been mappe d to Xp22.3, and several closely linked RFLP loci have been identified . Linkage analysis and deletion mapping have established the marker ge ne order ter-STS-DX237-(OA1,DXS143,DXS85)-DXS16-DXS43-Xcen. Although t he position of OA1 has yet not been fully resolved, we report on the f irst carrier detections in XOA of the Nettleship-Falls type by DNA ana lysis using markers which unquestionably flank OA1.