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  • 1
    Electronic Resource
    Electronic Resource
    A minor subset of HLA-DR3 haplotypes is preferentially increased in Type 1 (insulin-dependent) diabetes (1985)
    Springer
    Diabetologia 28 (1985), S. 891-894 
    Details
    ISSN: 1432-0428
    Keywords: Type 1 (insulin-dependent) diabetes ; genetics ; HLA antigens ; T-lymphocyte clones
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We have been using human T-lymphocyte clones specifically sensitized to detect leucocyte antigens of Type 1 (insulin-dependent) diabetic patients in the hope of detecting novel HLA antigens associated with Type 1 diabetes. We previously described two such clones which define a new class II HLA antigen, Boston-1 (BO1). BO1 is found mainly on cells of persons with particular HLA-DR antigens and, of potential significance for diabetes, BO1 identifies a distinctive subset of DR3 haplotypes. We report here that BO1+ DR3 haplotypes are overrepresented in Type 1 diabetes. That is, significantly more of the DR3-positive subjects are BO1-positive in the patient group (31%) than in the control group (8%), suggesting that a diabetes-susceptibility gene may be more common on the BO1+ than on the BO1− DR3 haplotypes. Alternative interpretations are also discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00703131
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  • 2
    Electronic Resource
    Electronic Resource
    Complotype genetic loci segregate more frequently with HLA-DR than with HLA-B (1985)
    Springer
    Immunogenetics 21 (1985), S. 25-31 
    Details
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The loci for BF, C2, C4A, and C4B are very closely linked to each other so that alleles of these plasma protein markers occur in populations in linkage disequilibrium and are inherited as single genetic units called complotypes. These complotypes are coded by a DNA region of the short arm of chromosome 6 embracing approximately 100 kilobases, which serve as a marker of the major histocompatibility complex. We have studied the complotypes of nine families with known HLA-B/DR crossovers. In seven families, the complotypes were inherited with HLA-DR, including in one family with a double recombination. The haplotype HLA-A28, Cw1, B27, FC3, 20, DR4 of JTr resulted from two recombinations between HLA-A2, Cwl, B27, SC42, DR7 and HLA-A28, Cwx or Cw1, B37, FC3, 20, DR4. In the remaining two families (Ro and Lo) the complotypes were inherited with HLA-B. The haplotype A2, Cw5, Bw44, SC30, DR3 of StLo resulted from paternal recombination between the haplotypes A2, Cw5, Bw44, SC30, DR4 and A24, B8, SC01, DR3, and the haplotype A24, Cw4, Bw35, SC31, DR3 of NaRo resulted from maternal recombination between A24, Cw4, Bw35, SC31, DR4 and A26, Bw41, FC31, DR3. Our data suggest that the complotype region maps closer to HLA-D than to HLA-B.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00372238
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  • 3
    Electronic Resource
    Electronic Resource
    Sharing of MHC haplotypes among apparently unrelated patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (1987)
    Springer
    Immunogenetics 25 (1987), S. 99-103 
    Details
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract From the study of HLA, complement, and glyoxalase I alleles in 82 Venezuelan individuals belonging to 19 families of mixed ethnic origin having 20 affected newborns with salt-wasting congenital adrenal hyperplasia due to 21-hydroxylase (21-OH) deficiency, a total of 38 disease haplotypes and 53 nondisease haplotypes were found. Of the pathological haplotypes 47 % were found to share the HLA-B39 or -Bw62 specificities, 55 % of them in combination with the BFS, C2C, C4A4, C4B2 (SC42) complotype. The frequencies of HLA-B39 and -Bw62 among the affected haplotypes were 29 and 18% as compared with 6 and 0 % among the nondisease haplotypes of the same families. Statistical associations (P 〈 0.01) with salt-wasting adrenal hyperplasia were found with the SC42 complotype and with the combination SC42, HLA-B39. These results are markedly different from those reported in the literature which show an “association” at the population level among many Caucasoid samples of HLA-Bw47 and the extended haplotype (HLA-Bw47, DR7, FC91, 0) with the salt-wasting form of the disease. Furthermore, four of the unrelated patients reported here were homozygous for all the major histocompatibility complex loci tested, while three others were homozygous for at least two HLA loci. Analysis of the geographical origin of the grandparents indicated clustering of the deficiency carrier HLA haplotypes. This observation, together with the fact that there is an excess of homozygotes among the patients in Venezuela, strongly suggests that salt-wasting 21-OH deficiency congenital adrenal hyperplasia is mostly the result of a founder effect of relatively few independent mutations and, thus, of identity by descent of a few abnormal alleles at the 21-OHB locus in most cases. The mutation marked by HLA-Bw47 was not observed in this population.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00364274
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  • 4
    Electronic Resource
    Electronic Resource
    Early Splenectomy and Survival of Inbred Mice (1967)
    [s.l.] : Nature Publishing Group
    Nature 215 (1967), S. 633-634 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] The syndrome of congenital cardiac disease associated with failure of the spleen to develop is rare, but has been repeatedly associated with overwhelming infection in early life15,16 King and Schumacher17 reported that children with haemolytic anaemia subjected early to splenectomy are prone to ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/215633a0
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  • 5
    Electronic Resource
    Electronic Resource
    Response of Primed LD Typing Cells to Homozygous Typing Cells (1977)
    Oxford, UK : Blackwell Publishing Ltd
    Scandinavian journal of immunology 6 (1977), S. 0 
    Details
    ISSN: 1365-3083
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: At least two different methods using cellular responses have been described for defining the determinants of the HLA-D region: typing with HLA-D homozygous cells and primed LD typing. Primed LD typing cells were generated in one-haplotype-different combinations and grouped on the basis of two or more cells appearing to define the same HLA-D-region-determined PL antigen. Such cells were restimulated with homozygous typing cells for several of the presently known HLA DW clusters. A very strong correlation was noted: PLT cells defining the antigen PL1 were restimulated with homozygous typing cells for DW3, those PLT cells defining the antigen PL2 were restimulated by homozygous typing cells for DW2, and those defining PL5 were restimulated by homozygous typing cells for DW1.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-3083.1977.tb02106.x
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  • 6
    Electronic Resource
    Electronic Resource
    thymus, immunity and autoimmunity (1971)
    Oxford, UK : Blackwell Publishing Ltd
    Annals of the New York Academy of Sciences 183 (1971), S. 0 
    Details
    ISSN: 1749-6632
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Natural Sciences in General
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1749-6632.1971.tb30752.x
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  • 7
    Electronic Resource
    Electronic Resource
    Increased fluidity of serum lipids and development of spontaneous mammary tumors in C3H mice (1980)
    Springer
    Cancer immunology immunotherapy 8 (1980), S. 49-54 
    Details
    ISSN: 1432-0851
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The degree of lipid fluidity (LFU) was quantitatively monitored by fluorescence polarization analysis of the hydrocarbon fluorescent probe diphenylhexatriene when embedded in artificial and biological lipid complexes. The results have shown a marked increase in LFU in serum lipids associated with the development of spontaneous mammary tumors in C3H mice. An increase in serum LFU was observed during the initiation of primary tumors. The serum LFU further increases as a function of increase in the tumor volume. This increase was not observed when animals were given transplants of syngeneic, spontaneously arising mammary tumors or following implants of antigenically inert glass beads. Since the serum LFU in C57BL/6, NZB and A/JAX non-tumor-bearing mice was found to be significantly lower than in C3H non-tumor-bearing mice, it is suggested that alterations in the dynamics of serum lipids in the C3H system may have a direct relation to the induction and/or growth of spontaneous tumors in these mice. Moreover, experiments carried out with an artificial membrane model system have shown that the dynamics of a lipid complex are directly determined by its lipid composition. The three major parameters that determine the LFU of a lipid domain are: (a) the relative amounts of different phospholipids; (b) the molar ratio of cholesterol to phospholipids; and (c) the degree of saturation of the fatty acids. It is therefore suggested that alterations of this kind may occur in serum lipids during spontaneous mammary tumor development in C3H mice.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00206354
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  • 8
    Electronic Resource
    Electronic Resource
    Genetics of life span in mice (1993)
    Springer
    Genetica 91 (1993), S. 211-223 
    Details
    ISSN: 1573-6857
    Keywords: MHC (Major Histocompatibility complex) ; TCR (T cell receptors) ; thymus ; viral infection
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Thymic involution that occurs earlier in some individuals than others may be the result of complex interactions between genetic factors and the environment. Such interactions may produce defects of thymus-dependent immune regulation associated with susceptibility to developing autoimmune diseases, malignancy, and an increased number of infections associated with aging. The major histocompatibility complex may be important in determining profiles of cause of death and length of life in mice. Genetic influences on life span involve interactions between loci and allelic interactions during life which may change following viral infections or exposure to other environmental factors. We have used different experimental protocols to study the influence of H-2 on life span and found that interactions between genetic regions, are inconsistent, particularly when comparing mice infected or not infected with Sendai virus. Genes important for life span need to be studied against many genetic backgrounds and under differing environmental conditions because of the complexity of the genetics of life span. Several genetic models were used to demonstrate that the MHC is a marker of life span in backcross and intercross male mice of the H-2d and H-2b genotypes in B10 congenic mice. Females lived longer than males in backcross and intercross mice, while males lived longer than females in B10 congenics. H-2d was at a disadvantage for life span in backcross mice of the dilute brown and brown males exposed to Sendai infection, but intercross mice not exposed to Sendai virus of the same genotype were not at a disadvantage. H-2d mice were not disadvantaged when compared to H-2b in B10 congenics that had not been exposed to Sendai virus infection but the reverse was true when they were exposed. Overall, all our studies suggest that genetic influences in life span may involve interactions between loci and many allelic interactions in growing animals or humans. These genetic influences on life span may vary after they are exposed to infections or other environmental conditions. This paper emphasizes the need to use several genetic models, especially animals that have been monitored for infections, to study the genetics of life span.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01435999
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  • 9
    Electronic Resource
    Electronic Resource
    Population data on 6 short tandem repeat loci in a sample of Caucasian-Mestizos from Colombia (2000)
    Springer
    International journal of legal medicine 113 (2000), S. 175-178 
    Details
    ISSN: 1437-1596
    Keywords: Key words Colombia ; PCR ; Hardy-Weinberg ; equilibrium ; Linkage equilibrium ; Paternity testing
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Law
    Notes: Abstract Blood samples from 409–452 unrelated Colombian Caucasian-Mestizo individuals were amplified and typed for six short tandem repeat (STR) markers (HUMF13A01, HUMFES/FPS, HUMVWA, HUMCSF1PO, HUMTPOX, HUMTH01). The allele frequencies, genotype frequencies, heterozygocity, mean paternity exclusion chance, polymorphism information content, discrimination power, assumption of independence within and between loci and Hardy Weinberg equilibrium were determined. The results demonstrate that all markers conform to Hardy-Weinberg equilibrium expectations. In addition, the results demonstrate the assumption of independence within and between the loci analysed. The mean exclusion chance (MEC) was 0.9851 for all six STR loci analysed and the discrimination power (DP) was 0.9999973. Therefore, this Colombian population database can be used in identity testing to estimate the frequency of a multiple PCR-based locus DNA profile in forensic cases as well as in paternity testing.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004140050293
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  • 10
    Electronic Resource
    Electronic Resource
    The role of Spleen in development of lympho-hemopoietic tissues: Effect of splenectomy on development of blood cells, bone marrow, thymus and lymph nodeAided by grants from The National Foundation, USPHS (HE-02085, AI-00798, NB-02042), American Heart Association and American Cancer Society. (1968)
    New York, NY [u.a.] : Wiley-Blackwell
    The @Anatomical Record 160 (1968), S. 781-793 
    Details
    ISSN: 0003-276X
    Keywords: Life and Medical Sciences ; Cell & Developmental Biology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Medicine
    Notes: The effects of splenectomy at birth and two and four weeks of age on the development of lymphoid and hematopoietic tissues has been compared in C3H/Bi mice. During the neonatal period normal mice showed changes in total leukocyte count, and in absolute members of the specific cell types. The predominant changes included an initial fall of numbers of granulocytes and steady increase in numbers of lymphocytes during the first six weeks of life. Neonatal splenectomy interfered with the normal developmental pattern by interfering with normal growth of numbers of circulating lymphocytes while splenectomy at two and four weeks of age produced increases in numbers of both circulating lymphocytes and granulocytes. Neonatal splenectomy produced effects on development of bone marrow, peripheral lymph nodes and thymus. The major influence seemed to involve decrease in percentages of small, densely stained lymphocytes in thymus and peripheral lymph nodes.
    Additional Material: 11 Ill.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/ar.1091600413
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