Application of HUMF13A01 (AAAG)n STR polymorphism to the genetic diagnosis of coagulation factor XIII deficiency

Thrombosis and Haemostasis

Volumn 76, Issue 6, 1996, Pages 879-882

  Kangsadalampai, Sasichai ^a   Coggan, Marjorie ^a   Çaglayan, S Hande ^b   Aktuglu, Gülten ^c   Board, Philip G ^a  

^a Biology and Environment   (Australia)

^b BOGAZICI UNIVERSITY   (Turkey)

^c ISTANBUL UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 13;

ARTICLE; CLINICAL ARTICLE; DNA FLANKING REGION; FEMALE; FETUS; GENETIC POLYMORPHISM; HUMAN; MALE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN DEFICIENCY;

FACTOR XIII; FACTOR XIII DEFICIENCY; FEMALE; HUMANS; LINKAGE (GENETICS); MALE; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; REPETITIVE SEQUENCES, NUCLEIC ACID;

EID: 0030456453     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0038-1650679     Document Type: Article

References (30)

1. Wölpl A, Lattke H, Board PG, Arnold R, Schmeiser T, Kubanek B, Robin-Winn M, Pichelmayr R, Goldmann SF. Coagulation factor XIII A and B subunits in bone marrow and liver transplantation. Transplantation 1987; 43: 151-3.
2. Poon MC, Russell JA, Low S, Sinclair GD, Jones AR, Blahey W, Ruether BA, Hoar DI. Hemopoietic origin of factor XIII A subunits in platelets, monocytes, and plasma. Evidence from bone marrow transplantation studies. J Clin Invest 1989; 84: 787-92.
3. Board PG, Webb GC, McKee J, lchinose A. Localization of the coagulation factor XIII A subunit gene (F13A) to chromosome bands 6p24>p25. Cytogenet Cell Genet 1988; 48: 25-7.
4. Webb GC, Coggan M, Ichinose A, Board PG. Localization of the coagulation factor XIII B subunit gene (F13B) to chromosome bands 1q31-32.1 and restriction fragment length polymorphism at the locus. Hum Genet 1989; 81: 157-60.
5. Board PG, Losowsky MS, Miloszewski KJA. Factor XIII: inherited and acquired deficiency. Blood Rev 1993; 7: 229-42.
6. Duckert F, Jung E, Shmerling DH. A hitherto undescribed congenital haemorrhagic diathesis probably due to fibrin stabilizing factor deficiency. Thromb Diath Haemorrh 1960; 5: 179-86.
7. Saito M, Asakura H, Yoshida T, Ito K, Okafuji K, Yoshida T, Matsuda T. A familial factor XIII subunit B deficiency. Br J Haematol 1990; 74: 290-4.
8. Tyler HM. A comparative study of the solvents commonly used to detect fibrin stabilization. Thromb Diath Haemorrh 1966; 16: 61-8.
9. Lorand L, Urayama T, de Kiewiet JWC, Nossel HL. Diagnostic and genetic studies on fibrin-stabilizing factor with a new assay based on amine incorporation. J Clin Invest 1969; 48: 1054-64.
10. Dvilansky A, Britten AFH, Loewy AG. Factor XIII assay by an isotope method. I. Factor XIII (transamidase) in plasma, serum, leucocytes, erythrocytes and platelets and evaluation of screening tests of clot solubility. Br J Haematol 1970; 18: 399-410.
11. Kappelmayer J, Bacsko G, Kelemen E, Adany R. Onset and distribution of factor XIII-containing cells in the mesenchyme of chorionic villi during early phase of human placentation. Placenta 1994; 15: 613-23.
12. Board P, Coggan M, Miloszewski K. Identification of a point mutation in factor XIII A subunit deficiency. Blood 1992; 80: 937-41.
13. Kamura T, Okamura T, Murakawa M, Tsuda H, Teshima T, Shibuya T, Harada M, Niho Y. Deficiency of coagulation factor XIII A subunit caused by the dinucleotide deletion at the 5' end of exon III. J Clin Invest 1992; 90: 315-9.
14. 171→stop codon) in factor XIII A subunit deficiency. Br J Haematol 1993; 85: 769-72.
15. Mikkola H, Syrjälä M, Rasi V, Vahtera E, Hämäläinen E, Peltonen L, Palotie A. Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels. Blood 1994; 84: 517-25.
16. Coggan M, Baker R, Miloszewski K, Woodfield G, Board P. Mutations causing coagulation factor XIII subunit A deficiency: characterization of the mutant proteins after expression in yeast. Blood 1995; 85: 2455-60.
17. Vreken P, Niessen RWLM, Peters M, Schaap MCL, Zuithoff-Rijntjes JGM, Sturk A. A point mutation in an invariant splice acceptor site results in a decreased mRNA level in a patient with severe coagulation factor XIII subunit A deficiency. Thromb Haemost 1995; 74: 584-9.
18. A Calgary: a candidate missense mutation (Leu667Pro) in the beta barrel 2 domain of the factor XIIIA subunit. Br J Haematol 1995; 91: 452-7.
19. Anwar R, Stewart AD, Miloszewski KJA, Losowsky MS, Markham AF. Molecular basis of inherited factor XIII deficiency: identification of multiple mutations provides insights into protein function. Br J Haematol 1995; 91: 728-35.
20. Ichinose A, Davie EW. Characterization of the gene for the α subunit of human factor XIII (plasma transglutaminase), a blood coagulation factor. Proc Natl Acad Sci USA 1988; 85: 5829-33.
21. Polymeropoulos MH, Rath DS, Xiao H, Merril CR. Tetranucleotide repeat polymorphism at the human coagulation factor XIII A subunit gene (F13A1). Nucleic Acids Res 1991; 19: 4306.
22. Wall WJ, Williamson R, Petrou M, Papaioannou D, Parkin BH. Variation of short tandem repeats within and between populations. Hum Mol Genet 1993; 2: 1023-9.
23. Hammond HA, Jin L, Zhong Y, Caskey CT, Chakraborty R. Evaluation of 13 short tandem repeat loci for use in personal identification applications. Am J Hum Genet 1994; 55: 175-89.
24. Puers C, Hammond HA, Caskey CT, Lins AM, Sprecher CJ, Brinkmann B, Schumm JW. Allelic ladder characterization of the short tandem repeat polymorphism located in the 5' flanking region to the human coagulation factor XIII A subunit gene. Genomics 1994; 23: 260-4.
25. Williamson R, Eskdale J, Coleman DV, Niazi M, Loeffler FE, Modell BM. Direct gene analysis of chorionic villi: A possible technique for first-trimester antenatal diagnosis of haemoglobinopathies. Lancet 1981; 2: 1125-7.
26. Kangsadalampai S, Farges-Berth A, Çaglayan SH, Board PG. New mutations causing the premature termination of translation in the A subunit gene of coagulation factor XIII. Thromb Haemost 1996; 76: 139-42.
27. Board PG, Chapple R, Coggan M. Haplotypes of the coagulation factor XIII A subunit locus in normal and deficient subjects. Am J Hum Genet 1988; 42: 712-7.
28. Zoghbi HY, Daiger SP, McCall A, O'Brien WE, Beaudet AL Extensive DNA polymorphism at the factor XIIIa (F13A) locus and linkage to HLA. Am J Hum Genet 1988; 42: 877-83.
29. n STR locus and a nearby two-base insertion/deletion polymorphic marker. Am J Hum Genet 1995; 56: 1005-6.
30. A deficiency. Thromb Haemost 1995; 73: 895.