A de novo recombination in the ABO blood group gene and evidence for the occurrence of recombination products

Human Genetics

Volumn 99, Issue 4, 1997, Pages 454-461

  Suzuki, Koichi ^a   Iwata, Misa ^a   Tsuji, Hiroko ^a   Takagi, Takeshi ^a   Tamura, Akiyoshi ^a   Ishimoto, Goichi ^b   Ito, Shigenori ^a   Matsui, Kiyoshi ^a   Miyazaki, Tokiko ^a  

^a OSAKA MEDICAL COLLEGE   (Japan)

^b MIE UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; BLOOD GROUP ABO SYSTEM; CASE REPORT; CONTROLLED STUDY; DNA POLYMORPHISM; EXON; FEMALE; GENETIC RECOMBINATION; HUMAN; HUMAN CELL; HYBRID GENE; INTRON; MALE; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PATERNITY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ABO BLOOD-GROUP SYSTEM; ADULT; ALLELES; CHILD; CHROMOSOME MAPPING; FEMALE; GENETIC SCREENING; HUMANS; MALE; PATERNITY; PEDIGREE; RECOMBINATION, GENETIC;

EID: 0030893812     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050388     Document Type: Article

References (39)

1. Bennett EP, Steffensen R, Clausen H, Weghuis DO, Kassel AG van (1995) Genomic cloning of the human histo-blood group ABO locus. Biochem Biophys Res Commun 206:318-325
2. Clausen H, Hakomori S (1989) ABH and related histo-blood group antigens; immunochemical differences in carrier isotypes and their distribution. Vox Sang 56:1-20
3. Clausen H, Bennett EP, Grunnet N (1994) Molecular genetics of ABO histo-blood groups. Trends Cell Biol 2:79-89
4. Crouse C, Vincek V (1994) Identification of ABO alleles on forensic-type specimens using rapid ABO genotypina. Biotechniques 18:478-483
5. Cullen M, Erlich H, Klitz W, Carrington M (1995) Molecular mapping of a recombination hotspot located in the second intron of the human TAP2 locus. Am J Hum Genet 56:1350-1358
6. Edwards AL, Hammond HA, Jin L, Caskey T, Chakraborty R (1992) Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups. Genomics 12: 241-253
7. Fukumori Y, Ohnoki S, Shibata H, Yamaguchi H, Nishimukai H (1995) Genotyping of ABO blood groups by PCR and RFLP analysis of 5 nucleotide positions. Int J Legal Med 107:179-182
8. Grunnet N, Steffensen R, Bennett EP, Clausen H (1994) Evaluation of histo-blood group ABO genotyping in a Danish population: frequency of a novel O allele defined as O1. Vox Sang 67: 210-215
9. Jeffreys AJ, Wilson V, Thein SL (1985) Hypervariable 'minisatellite' regions in human DNA. Nature 314:67-73
10. Jeffreys AJ, Turner M, Debenham P (1991) The efficiency of multilocus probes for individualization and establishment of family relationships, determined from extensive casework. Am J Hum Genet 48:824-840
11. Jeffreys AJ, Tamaki K, Macleod A, Monckton DG, Neil DL, Armour JAL (1994) Complex gene conversion events in germ line mutation at human minisatellites. Nat Genet 6:136-145
12. Kimpton C, Walton A, Gill P (1992) A further tetranucleotide repeat polymorphism in the vWF gene. Hum Mol Genet 1:287
13. Kobori JA, Strauss E, Minard K, Hood L (1986) Molecular analysis of the hotspot of recombination in the murine major histocompatibility complex. Science 234:173-179
14. Lu J, Riley R, Robertson M, Nelson L, Ward K (1993) Tetranucleotide repeat polymorphisms at the D8S342, D8S323, D8S345, D8S315 and D8S347 loci on 8q. Hum Mol Genet 2: 1743
15. Mollison PL, Engelfriet CP, Contreras M (1993) Blood transfusion in clinical medicine, 9th edn. Blackwell Scientific Publications, Cambridge, Mass
16. Murti JR, Bumbulis M, Schimenti JC (1992) High-frequency germ line conversion in transgenic mice. Mol Cell Biol 12:2545-2552
17. Murti JR, Bumbulis M, Schimenti JC (1994) Gene conversion between unlinked sequences in the germ line of mice. Genetics 137:837-845
18. Ogasawara K, Bannai M, Saitou N, Yabe R, Nakata K, Takanaka M, Fujisawa K, Uchikawa M, Ishikawa Y, Juji T, Tokunaga K (1996) Extensive polymorphism of ABO blood group gene: three major lineages of the alleles for the common ABO phenotypes. Hum Genet 97:777-783
19. O'Keefe DS, Dobrovic A (1993) A rapid and reliable PCR method for genotyping the ABO blood group. Hum Mutat 2:67-70
20. Olsson ML, Chester MA (1996) Frequent occurrence of a variant O1 gene at the blood group ABO locus. Vox Sang 70:26-30
21. Polymeropoulos MH, Rath DS, Xiao H, Merril CR (1990a) Trinucleotide repeat polymorphism at the human pancreatic phospholipase A-2 gene (PLA2). Nucleic Acids Res 18:7468
22. Polymeropoulos MH, Rath DS, Xiao H, Merril CR (1990b) Tetranucleotide repeat polymorphism at the human c-fes/fps proto-oncogene (FES). Nucleic Acids Res 19:4018
23. Reiter LT, Murakami T, Koeuth T, Pentao D, Muzny DM, Gibbs RA, Lupski JR (1996) A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element. Nat Genet 12:288-297
24. Salmon C, Cartron J-P, Rouger P (1984) The human blood groups. Year Book Medical Publishers, Chicago
25. Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 74:5463-5467
26. Shiroishi T, Hanzawa N, Sagai T, Ishiura M, Gojobori T, Steinmetz M, Moriwaki K (1990) Recombinational hotspot specific to female meiosis in the major histocompatibility complex of the mouse. EMBO J 10:681-686
27. Shows TB, McAlpine PJ, Boucheix C, Collins FS, Conneally PM, Frezal J, Gershowitz H, Goodfellow PN, Hall JG, Issitt P, Jones CA, Knowles BB, Lewis M, McKusick VA, Meisler M, Morton NE, Rubinstein P, Schanfield MS, Schmickel RD, Skolnick MH, Spence MA, Sutherland GR, Traver M, Van Cong N, Willard HF (1989) Guidelines for human gene nomenclature: an international system for human gene nomenclature (ISGN, 1987). Cytogenet Cell Genet 51:11-28
28. Smith GR, Kunes SM, Schulta DW, Taylor A, Triman KL (1981) Structure of chi hotspots of generalized recombination. Cell 24: 429-436
29. Stroncek DF, Konz R, Clay JP, Houchins JP, McCullough J (1995) Determination of ABO glycosyltransferase genotypes by use of polymerase chain reaction and restriction enzymes. Transfusion 35:231-240
30. Ugozzoli L, Wallace RB (1992) Application of an allele-specific polymerase chain reaction to the direct determination of ABO blood group genotypes. Genomics 12:670-674
31. Yamamoto F (1995) Molecular genetics of the ABO histo-blood group system. Vox Sang 69:1-7
32. Yamamoto F, Hakomori S (1990) Sugar-nucleotide donor specificity of histo-blood group A and B transferases is based on amino acid substitutions. J Biol Chem 265:19257-19262
33. Yamamoto F, Clausen H, White T, Marken J, Hakomori S (1990) Molecular genetic basis of the histo-blood group ABO system. Nature 345:229-233
34. 2 allele, one of the A subtypes, is characterized by a single base deletion in the coding sequence, which results in an additional domain at the carboxyl terminal. Biochem Biophys Res Commun 187:366-374
35. 3 alleles. Vox Sang 64:116-119
36. Yamamoto F, McNeill PD, Kominato Y, Yamamoto M, Hakomori S, Ishimoto S, Nishida S, Shima M, Fujimura Y (1993b) Molecular genetic analysis of the ABO blood group system. 2. cis-AB alleles. Vox Sang 64:120-123
37. Yamamoto F, McNeill PD, Yamamoto M, Kakomori S, Harris T (1993c) Molecular genetic analysis of the ABO blood group system. 3. AX and B (A) alleles. Vox Sang 64:171-174
38. Yamamoto F, McNeill PD, Yamamoto M, Hakomori S, Bromilow I, Duguid JKM (1993d) Molecular genetic analysis of the ABO blood group system. 4. Another type of O allele. Vox Sang 64: 175-178
39. Zimmerer EJ, Passmore HC (1991) Structural and genetic properties of the Eb recombinational hotspot in the mouse. Immunogenetics 33:132-140