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
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.