A molecular analysis of the telomeric end of the major histocompatibility complex

Dorak, M. Tevfik; Wilson, David; Galbraith, I.; Henderson, Nancy; Burnett, Alan Kenneth; Worwood, Mark

doi:10.1016/0198-8859(94)00054-t

Cited by 4 publications

(4 citation statements)

References 23 publications

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“…The cell lines previously typed by Southern blotting by us 45,47,48 and others 22 gave the expected results by the PCR-RFLP analysis of SNP þ 1267A4G. We increased the number of cell lines analysed and also examined the HSPA1B short tandem repeat (STR) and HSPA1A promoter sequence.…”

Section: Hspa1a and Hspa1bmentioning

confidence: 91%

“…The distribution of the HSPA1B (HSP70-2) PstI alleles in the MHC haplotypes was studied by Southern blotting. 2,3,22,47,48 In the present study, a PCR-RFLP system was used to type this polymorphism within the HSPA1B gene. The HSPA1B-specific amplification primers were HSPPSTF 5 0 -CAT CGA CTT CTA CAC GTC CA and HSPPSTR 5 0 -CAA AGT CCT TGA GTC CCA AC.…”

Section: Hla-dqa1mentioning

confidence: 99%

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Conserved extended haplotypes of the major histocompatibility complex: further characterization

et al. 2006

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Since the complete sequencing of a human major histocompatibility complex (MHC) haplotype, interest in non-human leucocyte antigen (HLA) genes encoded in the MHC has been growing. Non-HLA genes, which outnumber the HLA genes, may contribute to or account for HLA and disease associations. Most information on non-HLA genes has been obtained in separate studies of individual loci. To comprehensively address polymorphisms of relevant non-HLA genes in 'conserved extended haplotypes' (CEH), we investigated 101 International Histocompatibility Workshop reference cell lines and nine additional anonymous samples representing all 37 unambiguously characterized CEHs at MICA, NFKBIL1, LTA, NCR3, AIF1, HSPA1A, HSPA1B, BF, NOTCH4 and a single nucleotide polymorphism (SNP) at HLA-DQA1 as well as MICA, NOTCH4, HSPA1B and all five tumour necrosis factor short tandem repeat (STR) polymorphisms. This work (1) provides an extensive catalogue of MHC polymorphisms in all CEHs, (2) unravels interrelationships between HLA and non-HLA haplotypical lineages, (3) resolves reported typing ambiguities and (4) describes haplospecific markers for a number of CEHs. Analysis also identified a DQA1 SNP and segments containing MHC class III polymorphisms that corresponded with class II (DRB3 and DRB4) lineages. These results portray the MHC where lineages containing non-HLA and HLA variants in linkage disequilibrium may operate in concert and can guide more thorough design and interpretation of HLA-disease relationships.

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Section: Hspa1a and Hspa1bmentioning

confidence: 91%

Section: Hla-dqa1mentioning

confidence: 99%

Conserved extended haplotypes of the major histocompatibility complex: further characterization

et al. 2006

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“…This may have implications in disease studies. One example is hereditary hemochromatosis where an "ancestral" haplotype including HLA-A3 and B7 has been described (1). We have recently shown that the haplotype possessing HLA-A3 (D6S265-1) and D6S105-8, but not necessary B7, is more common in this condition (2).…”

Section: For This Analysis One Of the Primers Was Labelled With [ Y~~p ]mentioning

confidence: 99%

Distribution of alleles at D6S105 and D6S265 with possible HLA haplotype associations

1994

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“…D6S265 is a microsatellite marker located approximately 100 kb centromeric to HLA-A ( Jazwinska et al, 1995). Alleles at D6S265 are strongly correlated with HLA-A alleles and in particular D6S265-1 is found only with a common subgroup of HLA-A3 (Worwood et al, 1994a;Dorak et al, 1995). We have shown (Worwood et al, 1994b) that homozygosity for both D6S265-1 and D6S105-8 is associated with a high relative risk (RR) for haemochromatosis of 214 (95% CI 26-1720).…”

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confidence: 86%

The frequency of the haemochromatosis‐associated genotype D6S265‐1:D6S105‐8 in blood donors

et al. 1996

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Homozygosity for HLA-A3 and the microsatellite markers D6S265 allele 1 and D6S105 allele 8 is associated with a high relative risk for genetic haemochromatosis-indeed we and others have suggested that a haplotype including D6S265-1, HLA-A3 and D6S105-8 is specific for haemochromatosis. To determine the frequency of this haplotype and examine its specificity for haemochromatosis we have analysed data from 7820 blood donors from South Wales. The frequency of homozygosity for D6S265-1, HLA-A3 and D6S105-8 was 1 in 280. Calculations based on the prevalence of haemochromatosis suggest that about 50% of chromosomes carrying D6S265-1:HLA-A3:D6S105-8 also carry the haemochromatosis gene. This information is of value for assessing the risk that the partner of a patient with haemochromatosis also carries the haemochromatosis gene.

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A molecular analysis of the telomeric end of the major histocompatibility complex

Cited by 4 publications

References 23 publications

Conserved extended haplotypes of the major histocompatibility complex: further characterization

Conserved extended haplotypes of the major histocompatibility complex: further characterization

Distribution of alleles at D6S105 and D6S265 with possible HLA haplotype associations

The frequency of the haemochromatosis‐associated genotype D6S265‐1:D6S105‐8 in blood donors

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