Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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HLA class I histocompatibility antigen, C alpha chain

The HLA-C gene encodes an alpha chain of the MHC-I molecule which is present on almost all body cells and presents there intracellular oligopeptides to CD8 T cells. This antigen presentation is importand for development of immunotolerance and defense of virus infections. Variants are ssociated with varous immunological disorders such as autoinflammation and susceptibility to infections.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

HIV-1 viremia susceptibility
HLA-C
Psoriasis susceptibility 1
HLA-C

References:

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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Update: Aug. 14, 2020
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