Improved carrier detection of haemophilia A using novel RFLPs at the DXS115 (767) locus

Jedlicka, P., Greer, S., Millar, David Stuart, Grundy, C. B., Jenkins, E., Mitchell, M., Mibashan, R. S., Kakkar, V. V. and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 1990. Improved carrier detection of haemophilia A using novel RFLPs at the DXS115 (767) locus. Human Genetics 85 (3) , pp. 315-318.

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Abstract

Two novel restriction fragment length polymorphisms (RFLPs) around the DXS115 (767) locus, detectable with the restriction enzymes MspI, are described. Since DXS115 is closely linked to the factor VIII gene (F8C), the MspI RFLP was employed in haemophilia A carrier detection. The utility of these RFLPs lies in the increased applicability and accuracy of diagnoses carried out in cases where available intragenic markers are uninformative.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Uncontrolled Keywords:	Deoxyribonuclease HpaIIDeoxyribonucleases, Type II Site-Specific, Female, Genetic Markers, Genetic Testing, Hemophilia A/genetics, Heterozygote Detection/methods, Humans, Linkage Disequilibrium, Male, Pedigree, Polymorphism, Restriction Fragment Length, Prenatal Diagnosis.
Publisher:	Springer
ISSN:	0340-6717
Last Modified:	06 May 2023 01:16
URI:	https://orca.cardiff.ac.uk/id/eprint/62104

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