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词条 HLA-DR53
释义

  1. Alleles

  2. Associated diseases

  3. HLA-DRB1 linkage

  4. References

major histocompatibility complex, class II, DR53
HaplotypesDRA*01:DRB4*0101 DRA*01:DRB4*0102 DRA*01:DRB4*0103 DRA*01:DRB4*0104
Structure (See HLA-DR)
Identifiers
alpha *0101
Symbol(s)HLA-DRA
EBI-HLADRA*0101
Identifiers
beta 4 *0101 *0102 *0103 *0104
Symbol(s)HLA-DRB4
EBI-HLADRB4*0101
EBI-HLADRB4*0102
EBI-HLADRB4*0103
EBI-HLADRB4*0104
Shared data
Locuschr.6 [https://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?chromosome=6p21.31 6p21.31]

HLA-DR53 is an HLA-DR serotype that recognizes gene products of HLA-DRB4 locus. There are 13 alleles at this locus that encode 7 proteins.

DRB3, DRB4, and DRB5 are minor DR beta encoding loci, they have been recognized as having distinct evolution.[1] and the DRB4 locus presence is linked to HLA-DR7 seropositivity. The DRB4*locus was apparently duplicated from an ancestor of the DRB1-DRB4 common locus around 5 million years ago.[2]

DRB4 locus is only apparent in a small subset of DQ haplotypes, and most individuals lack DRB4. In addition the level of normal expression is 8 fold lower than the DRB1 in cells which can express both.[3] and lowered because of both transcriptional and post-transcriptional regulation.[4]

Alleles

DR53 recognition of some DRB4* alleles[5]
DRB4*DR53?Sample
allele % % size (N)
0101 95 38
0103 89 49

DR53 reactive alleles: DRB4*0101, *0103

Unknown reactivity: *0102, *0104 to *0107

Null alleles: *0101102N, *01030102N, *0201N, *0301N

Associated diseases

DRB4*01 is positively associated with Erythema multiforme,[6] Crohn's disease,[7] myasthenia gravis,[8] rheumatoid arthritis[9] Hashimoto's thyroiditis,[10] vitiligo,[11] primary biliary cirrhosis,[12] clozapine-induced agranulocytosis,[13] Vogt-Koyanagi-Harada disease,[14]

HLA-DRB1 linkage

HLA-DR53 serotypes (HLA-DRB4) is linked to the following HLADR serotypes (HLA-DRB1) allele groups:

HLA-DR4 - DRB1*04HLA-DR7 - DRB1*07HLA-DR9 - DRB1*09

References

1. ^{{cite journal |vauthors=Gorski J, Rollini P, Mach B |title=Structural comparison of the genes of two HLA-DR supertypic groups: the loci encoding DRw52 and DRw53 are not truly allelic |journal=Immunogenetics |volume=25 |issue=6 |pages=397–402 |year=1987 |pmid=3596674 |doi= 10.1007/BF00396106}}
2. ^{{cite journal |vauthors=Gyllensten U, Sundvall M, Ezcurra I, Erlich HA |title=Genetic diversity at class II DRB loci of the primate MHC |journal=J. Immunol. |volume=146 |issue=12 |pages=4368–76 |year=1991 |pmid=2040804 |doi= |issn=}}
3. ^{{cite journal |vauthors=Stunz LL, Karr RW, Anderson RA |title=HLA-DRB1 and -DRB4 genes are differentially regulated at the transcriptional level |journal=J. Immunol. |volume=143 |issue=9 |pages=3081–6 |year=1989 |pmid=2809218 |doi= |issn=}}
4. ^{{cite journal |vauthors=Leen MP, Gorski J |title=Differential expression of isomorphic HLA-DR beta genes is not a sole function of transcription |journal=Hum. Immunol. |volume=50 |issue=2 |pages=111–20 |year=1996 |pmid=8891734 |doi= 10.1016/0198-8859(96)00154-1}}
5. ^derived from IMGT/HLA
6. ^{{cite journal |vauthors=Lepage V, Douay C, Mallet C, etal |title=Erythema multiforme is associated to HLA-Aw33 and DRw53 |journal=Tissue Antigens |volume=32 |issue=3 |pages=170–5 |year=1988 |pmid=3217933 |doi= 10.1111/j.1399-0039.1988.tb01654.x}}
7. ^{{cite journal |vauthors=Kobayashi K, Atoh M, Yagita A, etal |title=Crohn's disease in the Japanese is associated with the HLA-DRw53 |journal=Exp. Clin. Immunogenet. |volume=7 |issue=2 |pages=101–8 |year=1990 |pmid=2322470 |doi= |issn=}}
8. ^{{cite journal |vauthors=Morita K, Moriuchi J, Inoko H, Tsuji K, Arimori S |title=HLA class II antigens and DNA restriction fragment length polymorphism in myasthenia gravis in Japan |journal=Ann. Neurol. |volume=29 |issue=2 |pages=168–74 |year=1991 |pmid=1672809 |doi=10.1002/ana.410290209}}
9. ^{{cite journal |vauthors=Morling N, Andersen V, Fugger L, etal |title=Immunogenetics of rheumatoid arthritis and primary Sjögren's syndrome: DNA polymorphism of HLA class II genes |journal=Dis. Markers |volume=9 |issue=5 |pages=289–96 |year=1991 |pmid=1686751 |doi= |issn=}}
10. ^{{cite journal |vauthors=Terauchi M, Yanagawa T, Ishikawa N, Ito K, Fukazawa T, Maruyama H, Saruta T | title = Interactions of HLA-DRB4 and CTLA-4 genes influence thyroid function in Hashimoto's thyroiditis in Japanese population. | journal = J Endocrinol Invest | volume = 26 | issue = 12 | pages = 1208–12 | year = 2003 | pmid = 15055474 | doi=10.1007/bf03349159}}
11. ^{{cite journal |vauthors=Zamani M, Spaepen M, Sghar S, Huang C, Westerhof W, Nieuweboer-Krobotova L, Cassiman J | title = Linkage and association of HLA class II genes with vitiligo in a Dutch population. | journal = Br J Dermatol | volume = 145 | issue = 1 | pages = 90–4 | year = 2001 | pmid = 11453913 | doi = 10.1046/j.1365-2133.2001.04288.x}}
12. ^{{cite journal |vauthors=Shimoda S, Nakamura M, Ishibashi H, Hayashida K, Niho Y | title = HLA DRB4 0101-restricted immunodominant T cell autoepitope of pyruvate dehydrogenase complex in primary biliary cirrhosis: evidence of molecular mimicry in human autoimmune diseases. | journal = J Exp Med | volume = 181 | issue = 5 | pages = 1835–45 | year = 1995 | pmid = 7536796 | doi = 10.1084/jem.181.5.1835 | pmc = 2191998}}
13. ^{{cite journal |vauthors=Corzo D, Yunis J, Salazar M, Lieberman J, Howard A, Awdeh Z, Alper C, Yunis E | title = The major histocompatibility complex region marked by HSP70-1 and HSP70-2 variants is associated with clozapine-induced agranulocytosis in two different ethnic groups. | journal = Blood | volume = 86 | issue = 10 | pages = 3835–40 | year = 1995 | pmid = 7579351}}
14. ^{{cite journal |vauthors=Kobayashi H, Kokubo T, Takahashi M, Sato K, Miyokawa N, Kimura S, Kinouchi R, Katagiri M | title = Tyrosinase epitope recognized by an HLA-DR-restricted T-cell line from a Vogt-Koyanagi-Harada disease patient. | journal = Immunogenetics | volume = 47 | issue = 5 | pages = 398–403 | year = 1998 | pmid = 9510558 | doi = 10.1007/s002510050375}}
{{DR serotypes}}{{DEFAULTSORT:Hla-Dr53}}

1 : HLA-DR haplotypes

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