Haemophilia A: carrier detection and prenatal diagnosis by linkage analysis using DNA polymorphism

Restriction fragment length polymorphisms (RFLPs) within or close to the factor VIII locus are very useful for genetic linkage analysis. Such RFLPs allow a mutant allele to be tracked in a family, segregating haemophilia A even when, as is usually the case, the precise mutation causing failure to sy...

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Bibliographic Details
Published in:Journal of clinical pathology 1987-09, Vol.40 (9), p.971-977
Main Authors: Tuddenham, E G, Goldman, E, McGraw, A, Kernoff, P B
Format: Article
Language:English
Subjects:
Biological and medical sciences
DNA - analysis
Female
Genetic Carrier Screening
Genetic Linkage
Genetic Markers
Hematologic and hematopoietic diseases
Hemophilia A - diagnosis
Hemophilia A - genetics
Humans
Male
Medical sciences
Pedigree
Platelet diseases and coagulopathies
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
Pregnancy
Prenatal Diagnosis
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Summary:Restriction fragment length polymorphisms (RFLPs) within or close to the factor VIII locus are very useful for genetic linkage analysis. Such RFLPs allow a mutant allele to be tracked in a family, segregating haemophilia A even when, as is usually the case, the precise mutation causing failure to synthesise factor VIII is unknown. To date two markers tightly linked to the factor VIII locus have been described, one of which is highly polymorphic and therefore informative in most kindreds. A significant crossover rate, however, does not make diagnosis absolute. Three intragenic RFLPs have been defined, which, taken together, are informative in about 70% of women, providing virtually deterministic genetic diagnosis.
ISSN:0021-9746
1472-4146
DOI:10.1136/jcp.40.9.971