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The molecular genetics of haemophilia A: screening for point mutations in the factor VIII gene using the restriction enzyme TaqI

Millar, David Stuart, Zoll, Barbara, Martinowitz, Uri, Kakkar, Vijay V. and Cooper, David Neil 1991. The molecular genetics of haemophilia A: screening for point mutations in the factor VIII gene using the restriction enzyme TaqI. Human Genetics -Berlin- 87 (5) , pp. 607-612. 10.1007/BF00209022

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Abstract

A combination of Southern blotting and the analysis of polymerase chain reaction (PCR) amplified DNA fragments was used to screen the factor VIII genes of 527 haemophilia A patients for point mutations within TaqI restriction sites. Since this “directed search” strategy yielded only four gene lesions, it was concluded that its efficacy is less than that originally predicted. One novel point mutation was however found in a moderately severe haemophiliac; a CGA (Arg) to CTA (Leu) transversion at codon 2209, an evolutionarily conserved residue in the C2 domain of the factor VIII protein. The remaining three detected lesions, CGA (Arg)→TGA (Term) transitions at codons 2116, 2147 and 2307, respectively, have been reported before and are consistent with recurrent mutation at these hypermutable sites. A number of TaqI restriction site polymorphisms/rare variants were also noted. These variants appear to be population-specific but are nevertheless potentially useful in individual cases as intragenic markers for carrier detection and antenatal diagnosis.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
Publisher: Springer Verlag
ISSN: 0340-6717
Last Modified: 16 Apr 2019 20:53
URI: http://orca.cf.ac.uk/id/eprint/62036

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