Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis.
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 (OA1) 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,DXS143,DXS85)-DXS1 6-DXS43-Xcen. Although the position of OA1 has yet not been fully resolved, we report on the first carrier detections in OXA of the Nettleship-Falls type by DNA analysis using markers which unquestionably flank OA1.
Bergen
A A
AA
The Netherlands Ophthalmic Research Institute, Amsterdam.
Schuurman
E J
EJ
van den Born
L I
LI
Samanns
C
C
van Dorp
D B
DB
Pinckers
A J
AJ
Bakker
E
E
van Ommen
G J
GJ
Gal
A
A
Bleeker-Wagemakers
E M
EM
D016117:Albinism, Ocular / Q000235:genetics*; D004247:DNA; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D014960:X Chromosome
D004247:DNA