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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.
E G Tuddenham, and
E Goldman, and
A McGraw, and
P B Kernoff
April 1991,
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis,
E G Tuddenham, and
E Goldman, and
A McGraw, and
P B Kernoff
September 1988,
The New Zealand medical journal,
E G Tuddenham, and
E Goldman, and
A McGraw, and
P B Kernoff
April 1992,
Pediatrics in review,
E G Tuddenham, and
E Goldman, and
A McGraw, and
P B Kernoff
January 1988,
Progress in medical genetics,
E G Tuddenham, and
E Goldman, and
A McGraw, and
P B Kernoff
August 1988,
Blut,
E G Tuddenham, and
E Goldman, and
A McGraw, and
P B Kernoff
August 1987,
Blood,
E G Tuddenham, and
E Goldman, and
A McGraw, and
P B Kernoff
January 1993,
Bulletin of the World Health Organization,
E G Tuddenham, and
E Goldman, and
A McGraw, and
P B Kernoff
August 1989,
The Medical journal of Australia,
E G Tuddenham, and
E Goldman, and
A McGraw, and
P B Kernoff
January 1990,
Haematologica,
E G Tuddenham, and
E Goldman, and
A McGraw, and
P B Kernoff
January 2001,
The National medical journal of India,
