Utility of a (GT)n dinucleotide repeat in intron 1 of the factor 8 gene for haemophilia A carrier diagnosis

Haemophilia

Volumn 11, Issue 2, 2005, Pages 142-144

  Tizzano, Eduardo F ^a   Vencesla A ^a   Cornet, M ^a   Baena, M ^a   Baiget, M ^a  

^a HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

Author keywords

Carrier diagnosis; Gene tracking; GT dinucleotide repeat; Haemophilia A; Intron 1

Indexed keywords

BLOOD CLOTTING FACTOR 8; DNA; GUANINE; TYROSINE; INTEIN;

ADULT; ARTICLE; BASE PAIRING; CHEMOLUMINESCENCE; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CONTROLLED STUDY; DINUCLEOTIDE REPEAT; DNA ISOLATION; FAMILY STUDY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; HEMOPHILIA A; HETEROZYGOSITY; HUMAN; HUMAN CELL; INTRON; MARKER GENE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; X CHROMOSOME; GENETICS; HETEROZYGOTE; HETEROZYGOTE DETECTION; METHODOLOGY;

BASE SEQUENCE; CHROMOSOMES, HUMAN, X; DINUCLEOTIDE REPEATS; FACTOR VIII; FEMALE; GENE FREQUENCY; HEMOPHILIA A; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; INTEINS;

EID: 16344393693     PISSN: 13518216     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2005.01071.x     Document Type: Article

References (11)

1. Antonarakis SE, Rossiter JP, Young M et al. Factor VIII gene inversions in severe haemophilia A: results of an International Consortium study. Blood 1995; 86: 2206-12.
2. Bagnall RD, Waseem N, Green P, Giannelli F. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe haemophilia A. Blood 2002; 99: 168-74.
3. Lalloz MR, Schwaab R, McVey JH, Michaelides K, Tuddenham EG. Haemophilia A diagnosis by simultaneous analysis of two variable dinucleotide tandem repeats within the factor VIII gene. Br J Haematol 1994; 86: 804-9.
4. Gitschier J, Drayna D, Tuddenham EG, White RL, Lawn RM. Genetic mapping and diagnosis of haemophilia A achieved through a Bcl polymorphism in the factor VIII gene. Nature 1985; 314: 738-40.
5. Chan V, Tong TM, Chan TP et al. Multiple XbaI polymorphisms for carrier detection and prenatal diagnosis of haemophilia A. Br J Haematol 1989; 73: 497-500.
6. Peake IR, Lillicrap DP, Boulyjenkov V et al. Report of a joint WHO/WFH meeting on the control of haemophilia: carrier detection and prenatal diagnosis. Blood Coagul Fibrinolysis 1993; 4: 313-44.
7. Tizzano EF, Domènech M, Baiget M. Inversion of the intron 22 in isolated cases of hemophilia A. Thromb Haemost 1995; 73 6-9.
8. Lin SR, Lin SW, Hsu YC, Shen MC. Identification of a new CA dinucleotide repeat in the human factor VIII gene. Br J Haematol 2000; 111: 1256-9.
9. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1989; 6: 1215.
10. Klopp N, Oldenburg J, Uen C, Schneppenheim R, Graw J. 11 hemophilia A patients without mutations in the factor VIII encoding gene. Thromb Haemost 2002; 88: 357-60.
11. Dardik R, Kenet G, Kornbrot N, Rosenberg N, Martinowitz U. Two novel polymorphic microsatellite markers in the FVIII gene useful in haemophilia A diagnosis. Haemophilia 2002; 8: 567-568.