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Prenatal exclusion of choroideremia
J A van den Hurk1, P M van Zandvoort, F Brunsmann
1Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
American Journal of Medical Genetics
|December 1, 1992
Abstract:
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.