Carrier Detection of Haemophilia B by Using an Intragenic Restriction-Fragment Length Polymorphism

Autor:	R M Bertina, van der Linden Ik, Pearson Pl, Bröcker-Vriends Ah, Quadt R, Jan J. Veltkamp, Ernest Briët, van de Kamp Jj
Rok vydání:	1985
Předmět:	Genetics Clotting factor TaqI Prenatal diagnosis Hematology Biology medicine.disease chemistry.chemical_compound Restriction enzyme medicine.anatomical_structure chemistry medicine Chorionic villi Haemophilia B Restriction fragment length polymorphism Factor IX medicine.drug
Zdroj:	Thrombosis and Haemostasis. 54:506-509
ISSN:	2567-689X 0340-6245
DOI:	10.1055/s-0038-1657884
Popis:	SummaryWe analysed DNA from individuals of five families with haemophilia B, including nineteen potential carriers. A genespecific probe was used to reveal a TaqI restriction-fragment length polymorphism. Segregation analysis of the polymorphic marker and the deleterious mutation within families allowed diagnosis at the gene level for 16 out of the 19 potential carriers, two proving to be carriers and 14 non-carriers. The obvious advantage is that lyonisation, which is a limiting factor when gene product (clotting factor IX) measurements are used for carrier detection, does not interfere with this procedure and that the result is a definitive diagnosis instead of a risk estimate. The method also permits prenatal diagnosis on chorionic villi in the first trimester of pregnancy.Restriction-fragment length analysis, based upon the probe and restriction enzyme used in this study, will be informative for approximately 45% of the individuals at risk of carrying or transmitting the haemophilia B mutation.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::feaee85b05c1d19e8ca6fd654712a864 https://doi.org/10.1055/s-0038-1657884 Zobrazit plný text záznamu