Prenatal exclusion of choroideremia

Autor:	P. M. van Zandvoort, I. H. Pawlowitzki, J.A.J.M. van den Hurk, Wolfgang Holzgreve, Frans P.M. Cremers, P. Szabo, B.A. van Oost, F. Brunsmann
Rok vydání:	1992
Předmět:	Adult Genetic Markers Male X Chromosome DNA Mutational Analysis Chorionic villus sampling Biology Polymerase Chain Reaction Choroideremia Pregnancy medicine Humans Allele reproductive and urinary physiology Genetics (clinical) Genetics Fetus medicine.diagnostic_test Infant Newborn Single-strand conformation polymorphism medicine.disease eye diseases Pedigree medicine.anatomical_structure Chorionic Villi Sampling embryonic structures Chorionic villi Female sense organs Restriction fragment length polymorphism Polymorphism Restriction Fragment Length
Zdroj:	American journal of medical genetics. 44(6)
ISSN:	0148-7299
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ba4df3d4bb28c6d3162d767fcba3982 https://pubmed.ncbi.nlm.nih.gov/1362326 Zobrazit plný text záznamu Plný text