Search PubMed⌕ Search

Biomedical subjects

P Rubinstein

Publications and source records attributed to P Rubinstein.

At least 163 records · Page 9Linked to original sources
PubMed1977

The HLA system and the genetics of juvenile diabetes mellitus.

Eighteen families with a total of 68 children were completely typed for HLA-A, B, C, D and Bf. With only one exception, all affected children within each family with 2 or more diabetic siblings, shared both HLA-D alleles indicating that J.D.M. is a recessive trait. Since half of the siblings who are HLA-D identical to the first affected child developed J.D.M. (as is the case of monozygotic twins), the gene(s) in question is most likely the sole genetic requirement for this disease and has a penetrance of 50%. No evidence of association between J.D.M. and B8, Dw3 or Bw15 was observed by analyzing the segregation of J.D.M. and of each of the above HLA antigens in informative families. A total of 9 out of 68 children bore a recombinant HLA haplotype. This increased rate of crossing-over in J.D.M. seems to require a single J.D.M. gene since the parents (9) in whom recombinations occurred were non-diabetic. No association was seen between the presence of the disease and the existence of a recombinant hoplotype.

Adult↗
PubMed1977

Complete HLA and Bf typing in families. I. Analysis of MLC responses and LD typing.

A triple normalization protocol for the analysis of MLC responses was evaluated using data obtained in more than 1700 triplicate reactions between the members of 17 families. The results show the method to be consistent with immunogenetic expectations. Typing responses to HTC, however, may have values identical with those of some weak one-haplotype responses and often can only be resolved by segregationanalysis.

Epitopes↗
PubMed1977

Complete HLA and Bf typing in families. II. Bf and the structure of the HLA region.

In two families with HLA-A,B cross-overs, the Bf locus followed the segregation of HLA-A rather than HLA-B as expected. These data, when analyzed together with those in the literature suggest that two different sequences of HLA genes exist in the population: one with Bf close to HLA-D and another with Bf in the HLA-A region.

Diabetes Mellitus, Type 1↗
PubMed1977

Intra-HLA recombinations in juvenile diabetes mellitus.

Complete HLA and Bf typing of 18 families with juvenile diabetes mellitus (J.D.M.) showed that of 68 children, 9 bore recombinant haplotypes (13%). This frequency is significantly higher than the currently accepted 1.6% for intra-HLA recombinations with a p of 1.3 X 10(6) (binomial expansion) and may be related to the J.D.M. gene itself. Five of the nine crossovers were between HLA-A and B, and four between HLA-B and D. In one informative A/B recombination, Bf segregated with the HLA-B-D segment while in another two, it segregated in cis with HLA-A. This suggests the existence of two genetic sequences within the HLA region, one with Bf on the A site and a second one with Bf on the D site.

Adult↗
PubMed1976

The HLA system in the families of patients with juvenile diabetes mellitus.

The HLA and Bf genotypes were determined in 10 families with one or more children with JDM. A statistically significant association was found between HLA-D-identity and the chance to present JDM within a sibship. No such association was detectable with the SD antigens. A highly significant increase in the frequency of intra-HLA recombination was also found in these families.

Diabetes Mellitus, Type 1↗
PubMed1976

Linkage of gene for C2 deficiency and the major histocompatibility complex MHC in man. Family study of a further case.

Close linkage between HL-A and C2 deficiency was first reported by FU and co-workers in 1974. We present here a pedigree of a 31-year-old C2-deficient individual with clinical manifestations of Hodgkins disease. The following markers were tested: C2 levels, factor B polymorphism, blood groups, and enzyme typing. In addition to close linkage between HL-A and C2 deficiency, both parents were heterozygous for Bf (HL-A linked, electrophoretic variation of B). The two HL-A haplotypes closely linked to C2 deficiency are different: 2, W18 and W24, W18. They share, however, the SD2 antigen W18 and the LD type 7a.

Adult↗
PubMed1976

Rhmod, a second kindred (Craig).

Three Rhmod siblings were found to have identical Rh: w1, w2, -3, -4, w5 (see article) phenotypes. All had stomatocytic hemolytic anemia. On quantitative hemagglutination studies, as well as on hand tests, all Rh antigens were not equally depressed. Rh17 (Hr0, 'not D') and Rh29 (RH, 'total Rh') were both normal. Rh5 (hr", e) was only slightly depressed. Rh25 (LW) had 50% of the expression expected in normal Rh:-1 cells. Rh1 (Rh0, D), Rh13 (RhA), Rh14 (RhB), Rh15 (RhC), and Rh16 (RhD), were severely depressed. Rh2 (rh', C) was depressed, while Rh7 (rhi, Ce) was absent. Both Rh19 (hrS) and Rh31 (hrB) were depressed. Rh12 (rhG, G) was distinctly depressed, scoring considerably less than rGrG red cells. The unrelated parents, the child of the proposita, and some siblings of each parent showed lessened depression of Rh antigens without displaying the consistent pattern that might be expected from a presumed single suppressor gene. Absence of a consistent pattern may have resulted from differing Rh genotypes, but a frequently observed depression involved Rh14, Rh15, and Rh16 (RhB, RhC, and RhD) without an effect on either Rh1 (RH3 or D) or Rh13 (RhA).

Female↗
PubMed1974

Quantitative studies on tumor enhancement in mice. I. Enhancement of sarcoma I induced by IgM, IgG1, and IgG2.

The concentration of specific alloantibody in purified mouse immunoglobulin preparations was determined. When passively transferred in adequate doses, IgM, IgG1, and IgG2 antibodies all induced tumor enhancement in allogeneic hosts. IgM and IgG2 antibodies in high concentration led to inhibition of tumor growth. IgM and either IgG1 or IgG2 had additive effects on tumor enhancement. IgG1, but not IgG2, suppressed the inhibitory effect of IgM in high concentration.

Animals↗