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  • 11
    Electronic Resource
    Electronic Resource
    Class III gene rearrangements in Thai/Chinese supratypes containing null or defective C4 alleles (1988)
    Springer
    Immunogenetics 27 (1988), S. 46-50 
    Details
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Class III gene rearrangements have been examined in Thai/Chinese individuals with supratypes bearing defective or null C4 alleles. Genomic DNA from C4 null supratypes was probed with an almost full-length 21-OH probe following digestion with Taq I and Kpn I. The HLA-B17 C4A3 BQO BfS DR3 Thai/Chinese supratypes (which may be associated with insulin-dependent diabetes mellitus in Orientals) lacks a 3.2 kb Taq I and a 3.9 kb Kpn I fragment hybridizing with the 21-OH probe. Similar gene rearrangements are found in Caucasoid diabetogenic supratypes HLA-B18 C4A3 BQO BfF1 DR3 and HLA-B8 C4AQ0 BI BfS DR3. Interethnic comparisons suggest that class II and class III interactions may be important in disease susceptibility. By contrast, neither of two Thai/Chinese supratypes with C4AQ0 appear to have major class III gene rearrangements; disease association studies will determine the significance of C4deficiency per se. As in Caucasoids, the electrophoretically fast C4 allele, C4A6, in Orientals has been shown to correlate with a 12 kb Bg1 II fragment hybridizing with a C4 probe. It is likely that the HLA-B17 C4A6 BI BfS DR7 supratype marks a highly conserved MHC chromosomal segment.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00404443
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  • 12
    Electronic Resource
    Electronic Resource
    Large transcripts and sequence from a polymorphic 170 kb MHC region implicated in susceptibility to autoimmune disease (1994)
    Springer
    Immunogenetics 39 (1994), S. 15-20 
    Details
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We have used the novel strategy of overlapping ye yeast artificial chromosome (YAC) clones to localize a series of new transcripts within a 170 kb region of the human major histocompatibility complex (MHC), containing genes likely to be of importance for disease susceptibility. Using cloned genomic probes we have further localized these transcripts to a region 15 kilobases (kb) centromeric of HLA-B. In the liver there are at least four transcripts ranging in size between 7.5 kb and 3.4 kb, while in the lung two trancripts of 5.8 kb and 4.2 kb are detected. The possible implications of these transcripts for autoimmune disease are discussed, given that they are located in a region previously shown to be of importance for susceptibility to insulin-dependent diabetes mellitus and myasthenia gravis. Furthermore, we conclude that YACs as large as 360 kb are able to be used as probes to identify new transcripts and that the MHC region between HLA-B and BATI is the site of a large multiply spliced gene, provisionally designated PERB6.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00171792
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  • 13
    Electronic Resource
    Electronic Resource
    Allelic and interlocus comparison of the PERB11 multigene family in the MHC (1997)
    Springer
    Immunogenetics 45 (1997), S. 209-216 
    Details
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract  The major histocompatibility complex (MHC) contains at least a hundred genes over 4 megabases of DNA. Within the MHC there are several new multigene families which have been recently described. PERB11 is a multigene family which occurs over the class I and central region of the MHC. Two members of the family have been shown to be functional and share domains with members of the supergene family including HLA class I, FcRn, and Zn-α2-glycoprotein molecules. The two functional members are contained within an area of the MHC which has been associated with increased susceptibility to autoimmune diseases such as insulin-dependent diabetes mellitus and also rapid progression to AIDS following HIV-1 infection. Intralocus and interlocus differences between PERB11.1 and PERB11.2 include: (1) several nucleotide substitutions leading to amino acid changes; (2) presence and absence of potential glycosylation sites; (3) insertions and deletions leading to a frame shift resulting in diversity at the amino acid level and an early termination signal. There are ten different alleles of PERB11.1 including one allele which contains a frame shift in the transmembrane region causing a putative truncated molecule lacking the cytoplasmic tail. The significance of this polymorphism in disease associations is under investigation. The most divergent domain is the transmembrane region when PERB11.1 and PERB11.2 are compared. The results suggest that these two molecules may have different functions.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002510050191
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  • 14
    Electronic Resource
    Electronic Resource
    ANCESTRAL HAPLOTYPES CARRY HAPLOTYPIC AND HAPLOSPECIFIC POLYMORPHISMS OF BAT1: POSSIBLE RELEVANCE TO AUTOIMMUNE DISEASE (1992)
    Oxford, UK : Blackwell Publishing Ltd
    International journal of immunogenetics 19 (1992), S. 0 
    Details
    ISSN: 1744-313X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: The human BAT1 gene, located in the central MHC region (–170kb centrometric of HLA-B), is polymorphic and the polymorphism correlates with MHC ancestral haplotypes. Allelic RFLP patterns have been assigned to several ancestral haplotypes and have been shown to be ‘haplotypic’ (i.e. found on all examples of the same ancestral haplotype) and in some cases ‘haplospecific’ (i.e. unique to one ancestral haplotype). The relevance of the BAT1 polymorphism to susceptibility to Myasthenia Gravis (MG) has been investigated. The frequency of the BAT1 B allelic pattern is increased in patients with MG (n= 16) compared to an equal number of control subjects. The increase is due to the association between MG and the 8.1 ancestral haplotype (HLA A1, Cw7, B8, BfS, C4AQ0, C4B1, DR3, DQw2).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1744-313X.1992.tb00051.x
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  • 15
    Electronic Resource
    Electronic Resource
    POLYMORPHISM IN THE HUMAN B144 GENE IN DIFFERENT MHC HAPLOTYPES (1992)
    Oxford, UK : Blackwell Publishing Ltd
    International journal of immunogenetics 19 (1992), S. 0 
    Details
    ISSN: 1744-313X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1744-313X.1992.tb00055.x
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  • 16
    Electronic Resource
    Electronic Resource
    HETEROGENEITY AND LINKAGE OF EQUINE C4 AND STEROID 21-HYDROXYLASE GENES (1987)
    Oxford, UK : Blackwell Publishing Ltd
    International journal of immunogenetics 14 (1987), S. 0 
    Details
    ISSN: 1744-313X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: The fourth component of complement (C4) is polymorphic in most species studied, and is encoded by a gene or genes within the MHC. In man and mouse there are two closely linked C4 and steroid 21-hydroxylase (21-OH) genes. Therefore we have used Southern blotting to determine whether equine C4 and 21-OH genes are linked. C4 restriction fragment length polymorphism (RFLP) was found with the enzymes EcoRI and BamHI. Comparison of the sizes of EcoRI-digested fragments of genomic DNA hybridizing with C4 and 21-OH probes revealed that equine C4 and 21-OH genes are separated by no more than 13 kb. Further, there is no evidence of C4 and 21-OH gene duplication in the horse. Segregation of ELA and different polymorphic forms of equine C4 suggest that C4 and 21-OH genes are within the MHC. It is likely that equine MHC supratypes will provide improved markers of disease susceptibility.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1744-313X.1987.tb00387.x
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  • 17
    Electronic Resource
    Electronic Resource
    CHARACTERIZATION OF MHC ANCESTRAL HAPLOTYPES ASSOCIATED WITH INSULIN-DEPENDENT DIABETES MELLITUS: EVIDENCE FOR INVOLVEMENT OF NON-HLA GENES (1990)
    Oxford, UK : Blackwell Publishing Ltd
    International journal of immunogenetics 17 (1990), S. 0 
    Details
    ISSN: 1744-313X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: Insulin-dependent diabetes mellitus (IDDM) is associated with several DR3- or DR4-containing ancestral haplotypes (AHs). Using pulsed field gel electrophoresis (PFGE), long range maps of 35 haplotypes have been derived and classified. Two diabetogenic DR3-containing AHs (8.1 and 18.2) possess deletions in the central non-HLA region; these have not been found on non-diabetogenic AHs tested to date. In addition, 8.1 and 18.2 also carry other deletions not found on other AHs. Three DR4 containing AH lack a Not 1 site, which may imply excision of an unidentified gene. These and other data suggest that deletions may be relevant to the pathogenesis of autoimmune disease, possibly through causing quantitative differences in autoimmune responses involved in IDDM. The MHC contains several regions of potential interest in relation to susceptibility to IDDM; these may explain the association with only certain DR3- and DR4-carrying AH and DR3,4 heterozygosity in terms of cis and trans interactions. On the other hand, the class I1 region may be particularly important in protection.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1744-313X.1990.tb00889.x
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  • 18
    Electronic Resource
    Electronic Resource
    IMMUNOGENETIC ANALYSIS OF SUCCESSFUL AND REJECTED BONE MARROW GRAFTS WITHIN ONE FAMILY (1994)
    Oxford, UK : Blackwell Publishing Ltd
    International journal of immunogenetics 21 (1994), S. 0 
    Details
    ISSN: 1744-313X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: We report the case of an Indonesian patient who required urgent bone marrow transplantation for acute leukaemia and who received successive transplants from two siblings. The first transplant failed while the second was successful. There were some uncertainties in serological typing due to the presence of cross-reacting HLA-B alleles, lack of paternal typing and the use of Caucasoid sera for Indonesian patients. Distinction between the two donors was also difficult. Interestingly, the use of a new DNA technique identified the presence of differences between the patient and the first unsuccessful donor but not the second successful donor.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1744-313X.1994.tb00206.x
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  • 19
    Electronic Resource
    Electronic Resource
    PREFERENTIAL PATERNAL TRANSMISSION OF THE DIABETOGENIC SUPRATYPE MARKED BY HLA B18 BfF1 DR3 (1985)
    Oxford, UK : Blackwell Publishing Ltd
    International journal of immunogenetics 12 (1985), S. 0 
    Details
    ISSN: 1744-313X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: Examination of transmission of the diabetogenic supratype B18 BfF1 DR3 revealed that this supratype is inherited more frequently than expected from fathers. These data suggest an explanation for increased susceptibility to development and earlier onset of insulin dependent diabetes mellitus in offspring of diabetic fathers.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1744-313X.1985.tb01065.x
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  • 20
    Electronic Resource
    Electronic Resource
    PCR SSCP REVEALS HAPLOTYPE RELATED POLYMORPHISM OF PERB 1: A NEW MARKER FOR MHC β BLOCK TYPING (1994)
    Oxford, UK : Blackwell Publishing Ltd
    International journal of immunogenetics 21 (1994), S. 0 
    Details
    ISSN: 1744-313X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: Many new Major Histocompatibility Complex (MHC) genes have been discovered in the last 5 years. Defining the polymorphism of these new genes may elucidate their function and their relevance to diseases with MHC associations. Polymerase chain reaction and single stranded conformation polymorphism (PCR SSCP) analyses were used to detect sequence polymorphisms of PERB1 demonstrated by comparing the available genomic sequence of four haplotypes. This study showed that PCR SSCP of PERB 1 is reproducible. In addition, PERB1 alleles segregate within families together with MHC haplotypes. Typing results from the Forth Asia and Oceania Histocompatibility Workshop (4AOHW) cell panel indicate that the identified polymorphisms of PERB 1 are ‘haplotypic’, i.e., unrelated individuals carrying the same MHC ancestral haplotypes carry the same PERB1 SSCP pattern. Interestingly, PERB1 SSCP patterns allow the distinction of ancestral haplotypes which share HLA-B serological specificities, such as HLA-B44 and therefore this analysis can be used to further define MHC haplotypes and thus to improve our understanding of the evolution of this complex.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1744-313X.1994.tb00216.x
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