Prenatal exclusion of choroideremia.
We performed prenatal testing to predict the inheritance of choroideremia (CHM) using a linked polymorphic DNA marker, DXS95. DNA analysis of chorionic villi at the 12th week of pregnancy indicated that the allele at risk had not been passed from the heterozygous mother to the fetus. This prenatal exclusion of choroideremia was confirmed by polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis.
Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
J A
JA
van den Hurk
P M
PM
van Zandvoort
F
F
Brunsmann
I H
IH
Pawlowitzki
W
W
Holzgreve
P
P
Szabo
F P
FP
Cremers
B A
BA
van Oost
D000328:Adult; D015193:Chorionic Villi Sampling; D015794:Choroideremia / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D014960:X Chromosome
D005819:Genetic Markers