Prenatal exclusion of haemophilia a and carrier testing by direct detection of a disease lesion

Schwartz, Marianne, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Millart, David S., Kakkar, Vijay V. and Scheibel, Elma 1992. Prenatal exclusion of haemophilia a and carrier testing by direct detection of a disease lesion. Prenatal Diagnosis 12 (11) , pp. 861-866. 10.1002/pd.1970121103

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Abstract

A novel mutation was detected in the Factor VIII gene of a sporadic case of severe haemophilia A. The lesion, a CGA TGA transition, converts Arg 795 to Term and adequately accounts for the severe phenotype observed. PCR/direct sequencing was used to confirm the carrier status in the mother. Exclusion of haemophilia A in an at-risk pregnancy was then achieved by demonstration of the absence of this lesion in fetal DNA from a chorionic villus sample. The mutation was also detectable by chemical cleavage of mismatch (CCM), which both confirmed the prenatal diagnosis and established the carrier status of the proband's sister. This example therefore serves to illustrate the potential of direct gene analysis in sporadic cases of haemophilia A and/or in families uninformative for known RFLPs.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Uncontrolled Keywords:	Factor VIII; Point mutation; Chemical mismatch cleavage.
Publisher:	Wiley
ISSN:	0197-3851
Last Modified:	27 Oct 2022 08:20
URI:	https://orca.cardiff.ac.uk/id/eprint/62030

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