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 e...

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Veröffentlicht in:	American journal of medical genetics 1992-12, Vol.44 (6), p.822-823
Hauptverfasser:	van den Hurk, J. A. J. M., van Zandvoort, P. M., Brunsmann, F., Pawlowitzki, I. H., Holzgreve, W., Szabo, P., Cremers, F. P. M., van Oost, B. A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Biological and medical sciences chorionic villi Chorionic Villi Sampling choroideremia Choroideremia - genetics DNA Mutational Analysis DXS95 familial mutation Female Genetic Markers Humans Infant, Newborn Male man Medical sciences Ophthalmology PCR-SSCP analysis Pedigree Polymerase Chain Reaction Polymorphism, Restriction Fragment Length Pregnancy prenatal diagnosis single-strand conformation polymorphism Uvea diseases X Chromosome
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Zusammenfassung:	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. © 1992 Wiley‐Liss, Inc.
ISSN:	0148-7299 1096-8628
DOI:	10.1002/ajmg.1320440621