Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Das HLA-C-Gen kodiert die alpha-Kette des MHC-I, einem Molekül welches auf fast allen Körperzellen vorhanden ist und dort intrazelluläre Peptide den CD8-T-Lymphozyten präsentiert. Diese Präsentation von peptid-Antigenen dient der Induktion einer Immuntoleranz und der Erkennung von virusinfizierten Zellen. Varianten in diesem Gen können mit verschiedenen immunologischen Störungen, wie Autoinflammation und gestörter Infektabwehr in Verbindung gebracht werden.
| Klinisch | Untersuchungsmethoden | Familienuntersuchung |
| Bearbeitungszeit | 5 Tage | |
| Probentyp | genomische DNS |
| Klinisch | Untersuchungsmethoden | Hochdurchsatz-Sequenzierung |
| Bearbeitungszeit | 25 Tage | |
| Probentyp | genomische DNS |
| Forschung | Untersuchungsmethoden | Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens |
| Bearbeitungszeit | 25 Tage | |
| Probentyp | genomische DNS |
| 1. |
Goverdhan SV et al. (2005) Association of HLA class I and class II polymorphisms with age-related macular degeneration. 
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| 2. |
Apps R et al. (2013) Response to Comment on "Influence of HLA-C expression level on HIV control".
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| 3. |
Lo Monaco E et al. (2013) Comment on "Influence of HLA-C expression level on HIV control".
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| 4. |
Apps R et al. (2013) Influence of HLA-C expression level on HIV control.
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| 5. |
Moraru M et al. (2012) Host genetic factors in susceptibility to herpes simplex type 1 virus infection: contribution of polymorphic genes at the interface of innate and adaptive immunity.
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| 6. |
O'huigin C et al. (2011) The molecular origin and consequences of escape from miRNA regulation by HLA-C alleles.
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| 7. |
Kulkarni S et al. (2011) Differential microRNA regulation of HLA-C expression and its association with HIV control.
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| 8. |
et al. (2010) The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.
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| 9. |
Thomas R et al. (2009) HLA-C cell surface expression and control of HIV/AIDS correlate with a variant upstream of HLA-C.
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| 10. |
Yeo TW et al. (2007) A second major histocompatibility complex susceptibility locus for multiple sclerosis.
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| 11. |
Nair RP et al. (2006) Sequence and haplotype analysis supports HLA-C as the psoriasis susceptibility 1 gene.
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| 12. |
Cianetti L et al. (1989) Three new class I HLA alleles: structure of mRNAs and alternative mechanisms of processing.
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| 13. |
Hiby SE et al. (2004) Combinations of maternal KIR and fetal HLA-C genes influence the risk of preeclampsia and reproductive success.
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| 14. |
Khakoo SI et al. (2004) HLA and NK cell inhibitory receptor genes in resolving hepatitis C virus infection.
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| 15. |
Walsh EC et al. (2003) An integrated haplotype map of the human major histocompatibility complex.
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| 16. |
Yen JH et. al. (2001) Major histocompatibility complex class I-recognizing receptors are disease risk genes in rheumatoid arthritis.
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| 17. |
Fan QR et al. (2001) Crystal structure of the human natural killer cell inhibitory receptor KIR2DL1-HLA-Cw4 complex.
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| 18. |
Carrington M et al. (1999) HLA and HIV-1: heterozygote advantage and B*35-Cw*04 disadvantage.
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| 19. |
Kostyu DD et al. (1997) HLA class I polymorphism: structure and function and still questions.
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| 20. |
Elder JT et al. (1994) The genetics of psoriasis.
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| 21. |
Sodoyer R et al. (1984) Complete nucleotide sequence of a gene encoding a functional human class I histocompatibility antigen (HLA-CW3).
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