Deletion of the fibrogen alpha-chain gene (FGA) causes congenital afibrogenemia

Journal of Clinical Investigation

Volumn 103, Issue 2, 1999, Pages 215-218

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

^a GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^b UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; FIBRINOGEN;

AFIBRINOGENEMIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLEEDING; BRAIN HEMORRHAGE; CASE REPORT; CONTROLLED STUDY; GENE DELETION; HAPLOTYPE; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SPLEEN RUPTURE; SWITZERLAND; CHROMOSOME 4; GENETIC MARKER; GENETICS; HOMOZYGOTE; PEDIGREE; POLYMERASE CHAIN REACTION; SOUTHERN BLOTTING;

AFIBRINOGENEMIA; BLOTTING, SOUTHERN; CHROMOSOMES, HUMAN, PAIR 4; FIBRINOGEN; GENETIC MARKERS; HAPLOTYPES; HOMOZYGOTE; HUMANS; MALE; PEDIGREE; POLYMERASE CHAIN REACTION; SEQUENCE DELETION; SWITZERLAND;

EID: 0032924251     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI5471     Document Type: Article

References (18)

1. Antonarakis, S.E., et al. 1995. Molecular etiology of factor VIII deficiency in hemophilia A. Adv. Exp. Med. Biol. 386:19-34.
2. Bertina, R.M., et al. 1994. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature. 369:64-67.
3. Nichols, W.C., et al. 1998. Mutations in the gene for ERGIC-53, a protein of the endoplasmic reticulum-Golgi intermediate compartment, cause combined deficiency of coagulation factors V and VIII. Cell. 93:61-68.
4. Rabe, F., and Salomon, E. 1920-Ueber-faserstoffmangel im Blute bei einem Falle von Hämophilie. Arch. Int. Med. 95:2-14.
5. Martinez, J. Congenital dysfibrinogenemia. 1997. Curr. Opin. Hematol. 4:357-365.
6. Crabtree, G.R. The molecular biology of fibrinogen. 1983. In The molecular basis of blood diseases. G. Stamatoyannopoulos, editor. W.B. Saunders. Philadelphia, PA. Chapter 17.
7. Kant, J.A., et al. 1985. Evolution and organization of the fibrinogen locus on chromosome 4: gene duplication accompanied by transposition and inversion. Proc. Natl. Acad. Sci. USA. 82:2344-2348.
8. Uzan, G., et al. 1984. Analysis of fibrinogen genes in patients with congenital afibrinogenemia. Biochem. Biophys. Res. Commun. 120:376-383.
9. Neerman-Arbez, M., et al. 1997. The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103. Am. J. Hum. Genet. 61:143-150.
10. Ridgway, H.J., Brennan, S.O., Faed, J.M., and George, P.M. 1997. Fibrinogen otago: a major alpha chain truncation associated with severe hypofibrinogenaemia and recurrent miscarriage. Br. J. Haematol. 98:632-639.
11. Lakich, D., Kazazian, H.H., Jr., Antonarakis, S.E., and Gitschier, J. 1993. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat. Genet. 5:236-241.
12. Rumsby, G., Fielder, A.H., Hague, W.M., and Honour, J.W. 1988. Heterogeneity in the gene locus for steroid 21-hydroxylase deficiency. J. Med. Genet. 25:596-599.
13. Phillips, J. A., et al. 1980. Unequal crossing-over: a common basis of single alpha-globin genes in Asians and American blacks with hemoglobin-H disease. Blood. 55:1066-1069.
14. Ottolenghi, S., and Giglioni, B. 1982. The deletion in a type of delta 0-beta 0-thalassaemia begins in an inverted AluI repeat. Nature. 300:770-771.
15. Lehrman, M.A., et al. 1985. Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains. Science. 227:140-146.
16. Jurka, J., Klonowski, P., Dagman, V., and Pelton, P. 1996. CENSOR a program for identification and elimination of repetitive elements from DNA sequences. Comput. Chem. 20:119-121.
17. Smit, A.F., and Riggs, A.D. 1995. MIRs are classic, tRNA-derived SINEs that amplified before the mammalian radiation. Nucleic Acids Res. 23:98-102.
18. Suh, T.T., et al. 1995. Resolution of spontaneous bleeding events but failure of pregnancy in fibrinogen-deficient mice. Genes Dev. 9:2020-2033.