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Haemophilia A diagnosis by automated fluorescent DNA detection of ten factor VIII intron 13 dinucleotide repeat alleles.

Kochhan, L, Lalloz, MR, Oldenburg, J, McVey, JH, Olek, K, Brackmann, HH, Tuddenham, EG and Schwaab, R (1994) Haemophilia A diagnosis by automated fluorescent DNA detection of ten factor VIII intron 13 dinucleotide repeat alleles. Blood Coagul Fibrinolysis, 5 (4). pp. 497-501.

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Abstract

Haemophilia A is a recessive X linked bleeding disorder caused by deficiency or functional abnormality of coagulation factor VIII. This disease usually has no visible phenotype in female carriers; hence, great efforts are made to offer all haemophilia A families accurate carrier diagnosis. Significant progress in this direction was made with the identification of the intron 13 variable number tandem repeat (VNTR), which is hitherto the most informative single marker within the factor VIII gene. The authors have established intron 13 VNTR detection in their laboratory by adapting its analysis to an automated sequencer using different primers of which one is fluorescent dye labelled. With this method, which is more rapid and convenient than that originally described, 67 haemophilia A families of German origin were screened and two new alleles (alleles 17 and 25) were identified. The informativeness of the VNTR in these families based on the patients maternal X chromosomes (134) is about 67%.

Item Type: Article
Authors :
NameEmailORCID
Kochhan, LUNSPECIFIEDUNSPECIFIED
Lalloz, MRUNSPECIFIEDUNSPECIFIED
Oldenburg, JUNSPECIFIEDUNSPECIFIED
McVey, JHj.mcvey@surrey.ac.ukUNSPECIFIED
Olek, KUNSPECIFIEDUNSPECIFIED
Brackmann, HHUNSPECIFIEDUNSPECIFIED
Tuddenham, EGUNSPECIFIEDUNSPECIFIED
Schwaab, RUNSPECIFIEDUNSPECIFIED
Date : August 1994
Uncontrolled Keywords : Alleles, Base Sequence, Factor VIII, Female, Hemophilia A, Heterozygote Detection, Humans, Introns, Male, Minisatellite Repeats, Molecular Sequence Data, Mosaicism, Oligonucleotides, Pedigree, Polymorphism, Genetic, Polymorphism, Restriction Fragment Length, Pregnancy
Related URLs :
Depositing User : Symplectic Elements
Date Deposited : 17 May 2017 10:16
Last Modified : 17 May 2017 14:48
URI: http://epubs.surrey.ac.uk/id/eprint/827091

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