The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster

European Journal of Human Genetics

Volumn 7, Issue 8, 1999, Pages 897-902

  Neerman Arbez, Marguerite ^a,b   Antonarakis, Stylianos E ^a   Honsberger, Ariane ^a   Morris, Michael A ^a  

^a GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^b UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

Author keywords

Blood coagulation disorder; Haemostasis; Haplotypes; Mutation, gene deletion; Recombination, genetic

Indexed keywords

ADENOSINE; CYTOSINE; DNA MARKER; FIBRINOGEN; REPETITIVE DNA; THYMIDINE;

AFIBRINOGENEMIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BASE PAIRING; CASE REPORT; CENTROMERE; CHROMOSOME INVERSION; CONTROLLED STUDY; DNA FLANKING REGION; DNA POLYMORPHISM; FAMILY STUDY; GENE CLUSTER; GENE DELETION; GENETIC RECOMBINATION; HAPLOTYPE; HUMAN; INTRON; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TELOMERE;

EID: 0033389548     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200395     Document Type: Article

References (16)

1. Rabe F. Salomon E: Ueber-faserstoffmangel im Blute bei einem Falle von Hämophilie. Arch Int Med 1920; 95: 2-14.
2. Martinez J: Congenital dysfibrinogenemia. Curr Opin Hemat 1997; 4: 357-365.
3. Crabtree GR: The molecular biology of fibrinogen. In: Stamatoyannopoulos et al (eds). The Molecular Basis of Blood Diseases. W.B. Saunders Co., Philadelphia, PA, USA, 1983, chap 17.
4. Kant JA, Fornace AJ Jr, Saxe D, Simon MI, McBride OW, Crabtree GR: Evolution and organization of the fibrinogen locus on chromosome 4: gene duplication accom. panied by transposition and inversion. Proc Natl Acad Sci USA 1985; 82: 2344-2348.
5. Neerman-Arbez M, Honsberger A, Antonarakis SE, Morris MA: Deletion of the fibrinogen alpha-chain gene (FGA) causes congenital afibrinogenemia. J Clin Invest 1999; 103: 215-218.
6. Suh TT, Holmback K, Jensen NJ et al: Resolution of spontaneous bleeding events but failure of pregnancy in fibrinogen-deficient mice. Genes Dev 1995; 9: 2020-2033.
7. SantaLucia J Jr: A unified view of polymer, dumbbell, and oligonucleotide DNA nearest-neighbor thermodynamics Proc Natl Acad Sci USA 1998; 95: 1460-1465.
8. Neerman-Arbez M, Antonarakis SE, Blouin JL et al: The locus for Combined Factor V-Factor VIII Deficiency (F5F8D) Maps to 18q21, between D18S849 and D18S1103. Am J Hum Genet 1997; 61: 143-150.
9. Cooper DN, Krawczak M: Human Gene Mutation. BIOS Scientific: Oxford, 1993.
10. Ottolenghi S, Giglioni B: The deletion in a type of delta 0-beta 0-thalassaemia begins in an inverted Alul repeat. Nature 1982; 300: 770-771.
11. Lehrman MA, Schneider WJ, Sudhof TC, Brown MS, Goldstein JL, Russell DW: Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains. Science 1985; 227: 140-146.
12. Lakich D, Kazazian HH Jr, Antonarakis SE, Gitschier J: Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet 1993; 5: 236-241.
13. Rumsby G, Fielder AH, Hague WM, Honour JW: Heterogeneity in the gene locus for steroid 21-hydroxylase deficiency. J Med Genet 1988; 25: 596-599.
14. Phillips JA, Vik TA, Scott AF et al: Unequal crossing-over: a common basis of single alpha-globin genes in Asians and American blacks with hemoglobin-H disease. Blood 1980; 55: 1066-1069.
15. Efstratiadis A, Posakony JW, Maniatis T et al: The structure and evolution of the human β-globin gene family. Cell 1980; 21: 653-668.
16. Uzan G, Courtois G, Besmond C et al: Analysis of fibrinogen genes in patients with congenital afibrinogenemia. Biochem Biophys Res Commun 1984; 120: 376-383.