Polymorphism scan for differences between transmitted and nontransmitted DRB1*030101 alleles outside of exon 2 for type 1 diabetes: The frequency of polymorphisms is similar

Human Immunology

Volumn 65, Issue 7, 2004, Pages 737-744

  Greene, Christopher N ^a   Cordovado, Suzanne K ^a   Mueller, Patricia W ^a  

^a NATIONAL CENTER FOR ENVIRONMENTAL HEALTH   (United States)

Author keywords

genetic polymorphism; genetic susceptibility; HLA DRB1; sequence specific priming PCR; type 1 diabetes mellitus

Indexed keywords

FLUORESCENT DYE;

ALLELE; ARTICLE; CHROMOSOME; CONTROLLED STUDY; DINUCLEOTIDE REPEAT; DNA FLANKING REGION; DNA SEQUENCE; EXON; GENE AMPLIFICATION; GENE FREQUENCY; GENE LOCUS; GENETIC POLYMORPHISM; GENETIC SCREENING; HEMIZYGOTE; HUMAN; HUMAN CELL; INSULIN DEPENDENT DIABETES MELLITUS; MUTATION RATE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RISK; STATISTICAL SIGNIFICANCE;

3' FLANKING REGION; DIABETES MELLITUS, TYPE 1; DINUCLEOTIDE REPEATS; DNA; EXONS; GENE FREQUENCY; HAPLOTYPES; HLA-DR ANTIGENS; HUMANS; INHERITANCE PATTERNS; INTRONS; PATIENT SELECTION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; PROMOTER REGIONS (GENETICS); SEQUENCE ANALYSIS, DNA;

EID: 4043102600     PISSN: 01988859     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.humimm.2004.05.003     Document Type: Article

References (30)

1. Davies J.L., Kawaguchi Y., Bennett S.T., Copeman J.B., Cordell H.J., Pritchard L.E., Reed P.W., Gough S.C.L., Jenkins S.C., Palmer S.M., Balfour K.M., Rowe B.R., Farrall M., Barnett A.H., Bain S.C., Todd J.A. A genome-wide search for human type 1 diabetes susceptibility genes. Nature. 371:1994;130
2. Hashimoto L., Habita C., Beressi J.P., Delepine M., Besse C., Cambon-Thomsen A., Deschamps I., Rotter J., Djoulah S., James M.R., Froguel P., Weissenbach J., Lathrop M., Juller C. Genetic mapping of a susceptibility locus for insulin-dependent diabetes mellitus on chromosome 11q. Nature. 371:1994;161
3. Concannon P., Gogolin-Ewens K., Hinds D.A., Wapelhorst B., Morrison A., Stirling B., Mitra M., Farmer J., Williams S.R., Cox N.J., Bell G.I., Risch N., Spielman R.S. A second-generation screen of the human genome for susceptibility to insulin-dependent diabetes mellitus. Nat Genet. 19:1998;292
4. Mein C.A., Esposito L., Dunn M.G., Johnson G.C.L., Timms A.E., Goy J.V., Smith A.N., Sebag-Montefiore L., Merriman M.E., Wilson A.J., Pritchard L.E., Cucca F., Barnett A.H., Bain S.C., Todd J.A. A search for type 1 diabetes susceptiblity genes in families from the United Kingdom. Nat Genet. 19:1998;297
5. Cox N.J., Wapelhorst B., Morrison A., Johnson L., Pinchuk L., Spielman R.S., Todd J.A., Concannon P. Seven regions of the genome show evidence of linkage to type 1 diabetes in a consensus analysis of 767 multiplex families. Am J Hum Genet. 69:2001;820
6. Pocoit F., McDermott M.F. Genetics of type 1 diabetes mellitus. Genes Immun. 3:2002;235
7. Rich S.S., Concannon P. Challenges and strategies for investigating the genetic complexity of common human diseases. Diabetes. 51:2002;S288
8. Risch N. Assessing the role of HLA-linked and unlinked determinants of disease. Am J Hum Genet. 40:1987;1
9. Noble J.A., Valdes A.M., Cook M., Klitz W., Thomson G., Erlich H.A. The role of HLA class II genes in insulin-dependent diabetes mellitus molecular analysis of 180 Caucasian, multiplex families. Am J Hum Genet. 59:1996;1134
10. Thomson G., Robinson W.P., Kuhner M.K., Joe S., MacDonald M.J., Gottschall J.L., Barbosa J., Rich S.S., Bertrams J., Baur M.P. Genetic heterogeneity, modes of inheritance, and risk estimates for a joint study of Caucasians with insulin-dependent diabetes mellitus. Am J Hum Genet. 43:1988;799
11. Undlien D.E., Friede T., Rammensee H.-G., Joner G., Dahl-Jorgensen K., Sovik O., Akselsen H.E., Knutsen I., Ronningen K.S., Thorsby E. HLA-encoded genetic predisposition in IDDM DR4 subtypes may be associated with different degrees of protection. Diabetes. 46:1997;143
12. Chen D.S., Tang T.F., Pulyaeva H., Slack R., Tu B., Wagage D., Li L., Perlee L., Ng J., Hartzman R.J., Hurley C.K. Relative HLA-DRB1*04 allele frequencies in five United States populations found in a haematopoetic stem cell volunteer donor registry and seven new DRB1*04 alleles. Hum Immunol. 63:2002;665
13. Tang T.F., Wang J., Slack R., Lin Y.-S., Li L., Heine U., Ng J., Hartzman R.J., Hurley C.K. DRB1*03 diversity and DRB3 associations in five major population groups in the United States. Hum Immunol. 63:2002;221
14. Lee K.H., Wucherpfennig K.W., Wiley D.C. Structure of a human insulin peptide-HLA-DQ8 complex and susceptibility to type 1 diabetes. Nat Immunol. 2:2001;501
15. Cucca F., Dudbridge F., Loddo M., Mulargia A.P., Lampis R., Angius E., Virgiliis D., Koeleman B.P.C., Bain S.C., Barnett A.H., Gilchrist F., Cordell H.J., Welsh K., Todd J.A. The HLA-DPB1-associated component of the IDDM1 and its relationship to the major loci HLA-DQB1, -DQA1, and -DRB1. Diabetes. 50:2001;1200
16. Robinson W.P., Barbosa J., Rich S.S., Thomson G. Homozygous parent affected sib pair method for detecting disease predisposing variants applications to insulin dependent diabetes mellitus. Genet Epidemiol. 10:1993;273
17. Moghaddam P.H., de Knijf P., Roep B.O., Van der Auwera B., Naipal A., Gorus F., Schuit F., Giphart M.J. Genetic structure of IDDM1 two separate regions in the major histocompatibility complex contribute to susceptibility or protection. Diabetes. 47:1998;263
18. Lie B.A., Todd J.A., Pocoit F., Nerup J., Akselsen H.E., Joner G., Dahl-Jørgensen K., Rønningen K.S., Thorsby E., Undlien D.E. The predisposition to type 1 diabetes linked to the human leukocyte antigen complex includes at least one non-class II gene. Am J Hum Genet. 64:1999;793
19. Skerra A. Phosphorothioate primers improve the amplification of DNA sequences by DNA polymerases with proofreading activity. Biotechniques. 20:1992;3551
20. Andersson G. Evolution of the human HLA-DR region. Front Biosci. 3:1998;739
21. Su X.-z, Wu Y., Sifri C.D., Wellems T.E. Reduced extension temperatures required for PCR amplification of extremely A+T-rich DNA. Nucleic Acids Res. 24:1996;1574
22. Jeffreys A.J., Kauppi L., Neumann R. Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex. Nat Genet. 29:2001;217
23. Kruglyak L., Nickerson D.A. Variation is the spice of life. Nat Genet. 27:2001;234
24. Epplen C., Santos E.J.M., Guerreiro J., van Helden P., Epplen J. Coding versus intron variability extremely polymorphic HLA-DRB1 exons are flanked by specific composite microsatellites, even in distant populations. Hum Genet. 99:1997;399
25. m repeats in HLA-DRB gene. Immunogenetics. 32:1990;110
26. Bergström T.F., Josefsson A., Erlich H.A., Gyllensten U. Recent origin of HLA-DRB1 alleles and implications for human evolution. Nat Genet. 18:1998;237
27. Blasczyk R., Kotsch K., Wehling J. The nature of polymorphism of the HLA-DRB intron sequences is lineage specific. Tissue Antigens. 52:1997;19
28. Bergström T.F., Engkvist H., Erlandsson R., Josefsson A., Mack S.J., Erlich H.A., Gyllensten U. Tracing the origin of HLA-DRB1 alleles by microsatellite polymorphism. Am J Hum Genet. 64:1999;1709
29. Stenzel A., Lu T., Koch W.A., Hampe J., Guenther S.M., De La Vega F., Krawczak M., Schreiber S. Patterns of linkage disequilibrium in the MHC region on human chromosome 6p. Hum Genet. 114:2004;377
30. Walsh E.c, Mather K.A., Schaffner S.F., Farwell L., Daly M.J., Patterson N., Cullen M., Carrington M., Bugawan T.L., Erlich H., Campbell J., Barrett J., Miller K., Thomsom G., Lander E.S., Rioux J.D. An integrated haplotype map of the human major histocompatibility complex. Am J Hum Genet. 73:2003;580