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Biomedical subjects

L Rivat

Publications and source records attributed to L Rivat.

At least 19 recordsLinked to original sources

Interactive effect of HLA and Gm tested in a study of 135 juvenile insulin-dependent diabetic families.

Interaction between HLA and Gm for susceptibility to insulin-dependent diabetes (IDD) has been studied in 135 IDD families comparing HLA and Gm phenotype distributions in patients and sibling controls. The association analysis comparing the 135 index cases to 124 sibling controls did not show any significant interaction, but only a tendency for Gm 4,5 phenotypes to be more frequent in IDD patients, particularly in those who carried DR3/X. The sib pair analysis of 16 pairs of affected sibs did not show any distortion of segregation of Gm. On the other hand, among 98 sib pairs of one affected and one nonaffected sib, there was a significant distortion in favour of sib pairs with non-identical Gm phenotypes. However, no interaction between HLA and Gm was found. These results provide suggestive evidence that Gm or a locus very close to Gm could be involved in susceptibility to IDD.

Adolescent

Gm, Am and Km immunoglobulin allotypes of two populations in Tunisia.

Gm, Am and Km allotypes were investigated in two Tunisian populations (236 samples from Mahdia and 142 samples from Sfax). These populations descend from immigrants and, therefore, the results were compared with those obtained in other populations living in the Near East and in North Africa. The subclass heavy chain allotypes G1m, G2m, G3m and A2m are inherited in fixed combinations. There were five main and four minor Gm-Am haplotypes that could be deduced from the phenotypes. This led to the conclusion that the populations studied are Caucasoids with some African admixture (about 10%) and a very low oriental contribution. Furthermore, there were 11 samples which showed 8 uncommon Gm-Am phenotypes. These could be explained by the assumption of five different uncommon Gm-Am haplotypes. Four of these may have arisen by equal crossing over of prevalent haplotypes. The fifth may be the result of unequal crossing over of prevalent haplotypes. The fifth may be the result of unequal crossing over, since it was proven, by family study, that more markers are transmitted together than are present in the prevalent haplotypes.

Female

[Exclusion of MNSS, Kidd and Gm from the extreme end of the short portion of chromosome 8].

11 blood and seric group markers were studied in a case of 46,XX,del(8)(qter yields p22 :) in order to contribute to the exclusion map. MNSs and Jk are informative and could be excluded from the region. The proband is also definitly heterozygous for immunoglobulin Gm groups which were tentatively assigned to the short arm of chromosome 8 or 12.

Abnormalities, Multiple

Common and uncommon immunoglobulin haplotypes among Lebanese communities.

Allotypes of IgG1, IgG2, IgG3, and IgA2 subclasses were investigated in seven Lebanese communities (three Moslem and four Christian). The Gm-Am haplotypes found were mainly those prevalent in Caucasians with a low frequency of haplotypes usually observed in Africans and Orientals. The difference between highlanders and lowlanders as expressed by G2m(23) was highly significant and suggested a possible adaptation to selective pressure related to the gamma2 genes, possibly due to endemic malaria in the past. Exceptional Gm-Am haplotypes were unambiguously determined by family studies. Some were characterized either by a deletion or a repression or, in contrast, by a partial or total duplication of gamma genes. Two others had uncommon combinations of allotypes: Gm17;23;5,10,11,13,14 A2m1, where G1m (17) was present without G1m (1); and Gm3;23;5,14 A2m1, where the CH3 allotypes G3m (10,11,13) were lacking.

Gene Frequency

Immunoglobulin Gm and Km genetic markers in Vietnamese.

The distribution of the G1m (1,2,3,17), G2m(23), G3m(5,10,11,13,14,15,21,28) and Km (1,2) allotypic markers has been examined in 122 unrelated Vietnamese subjects originating from all regions of Vietnam. The 13 observed phenotypes have been explained by means of 8 haplotypes: 5 'major' ones (which are also known to be usual in all other reported Mongoloid populations) and 3 'minor' ones. Consideration of gene frequencies allows easy integration of Vietnamese within the south-north cline of Gm haplotype distribution in East Asia, where they insert between Southern Chinese, on one hand, and Singapore as well as South Central Chinese on the other hand. The observed Km10.290 frequency value revealed to be of the same order of magnitude as the values reported for most other non-Thai Mongoloids.

Gene Frequency

[Urinary evaluation of 5-S-cysteinyldopa and seric evaluation of IgG4 subclass during follow-up of 27 primitive malignant melanomas (author's transl)].

27 patients with SSM or NM level IV and V have been submitted to a monthly evaluation of their level of 5-S-cysteinyldopa in the urine and IgG4 subclass in their sera. For 5 patients who entered the stage II of their disease during the follow-up, 3 had elevation of the 5S and 5 had large variations of IgG4. On 21 patients in clinical remission, 10 had conjunctly an increase of 5S and variations of IgG4. The predictional value of these tests is discussed.

Cysteinyldopa

[Gm(28), a new allotypic marker on human IgG3: peculiar interest of its study within Negroid populations (author's transl)].

A new allotype in the Gm system (Gm(28)) was described and studied. Among Caucasoids and Mongoloids, it was found with rare exceptions, in samples containing Gm(21), segregating with Gm1,17,21 and Gm1,2,17,21 haplotypes. This new antigenic determinant was found to be of particular interest among Negroid populations in which its frequency is variable. It can be detected with all--common or uncommon--haplotypes. The degree to which it is associated with some haplotypes in different populations may prove useful in the characterization of Negroid populations. This new allotypic determinant is located on the CH3 homology region of IgG3 subclass.

Animals

IgG4 subclass in malignant melanoma.

Three hundred and ninety-seven sera from 185 melanoma patients were studied. These sera were classified into three groups according to stage of disease. An alteration in the level of the IgG4 subclass was found. It was related to the dissemination of disease. The percentage of abnormalities (either increased or decreased levels of IgG4) was more frequent in patients with stage II and III diseases (55 and 53%, respectively) than in patients with stage I(19%). The higher frequencies of high titers of IgG4 were essentially detected in advanced disease. The biologic significance of the increase of IgG4 in melanoma remains obscure. The increase may be related to the development of facilitating antibodies of the IgG4 subclass.

Female

Quantitative studies of Gm allotypes. II. G1m(1), G3m(5) and G3m(21) in sera from healthy caucasoid blood donors, and in a family with the inheritance of a gene responsible for a weak Gm1,17;..;21 haplotype.

The quantitative expression of three allotypes--G1m(1), G3m(5) and G3m(21)--has been studied in normal caucasoid sera. A gene dosage effect, previously described for all of these allotypes, is not noticed for G3m(5) in the present study. The different content of G3m(5) and G3m(21) IgG3 molecules in heterozygous Gm5/Gm21 sera has been verified: these contents are respectively 75% and 25% of the IgG3 content. The same allotypes have been studied in a family which shows the inheritance of a weak Gm1,17;21 haplotype. The gene responsible for this abnormality is probably a new regulatory gene, and is transmitted without the 'aimed' haplotype.

Alleles

Recombination, mutation, or constitutive expression at a Gm locus and familial hypergammaglobulinemia.

In a hypercholesterolemic Lebanese family, an uncommon Gm haplotype carrying an unexpected C gamma 1 gene was inherited by only one of 10 siblings. A new recombination during the maternal or paternal meiosis could explain its formation. According to this hypothesis, our data would be informative for the linkage relationship between the gamma-cistrons and the alpha 2-cistron. The latter might be located near the N-terminal side of the gamma-cistron linkage group, and the sequence of genes would be alpha 2, gamma 4, gamma 3, and gamma 1. A mutation could also effect the change from G1m(17) (codons AAA and AAG) TO G1m(3) (codons AGA and AGG). Another alternative is to postulate a constitutive expression of a C gamma 1 structural gene which, normally, would not be expressed. The uncommon derepression could be the consequence of uncommon cellular response to environmental, pathological or metabolic perturbation of a regulatory mechanism.

Adolescent

Deletion of hinge region of human myeloma IgG1 molecule (protein LEC) associated with nonexpression of G1m (3) and Km (1, 2) allotypes. A possible genetic explanation at the DNA level.

In this paper we report the structural basis for the nonexpression of G1m(3) and Km (1,2) allotypes in an IgG1 (kappa) human myeloma protein (protein LEC). Heavy and light chains spontaneously dissociate in sodium dodecyl sulfate polyacrylamide gels. Light chains appear to be covalently S-S bonded. Analysis of cysteine-containing peptides shows that the heavy chain of the IgG protein LEC has a deletion of residues 216-230, thus encompassing the entire hinge region. An arginine residue, characteristic of the G1m(3) marker is present at position 214. An alanine at position 153 and a leucine at position 191 of the light chain, characteristic of the Km (1, 2) allotypes, are present. It is likely that the double Km and Gm lack of expression is the result of the deletion. The genetic implications of the sequence of this protein are discussed.

Amino Acid Sequence

Antigenic determinants of heavy chain variable regions: immumological typing of the human immunoglobulin VHIII subgroup.

An antigenic determinant of the VHIII variable region subgroup was defined by means of a heterologous specific antiserum using a hemagglutination inhibition procedure. The specificity of this antiserum was established in inhibition experiments with proteins either of known primary structure or belonging to a definite VH subgroup. A series of IgG, IgA, IgM and IgD monoclonal proteins was examined for the presence of this VHIII subgroup antigenic determinant. The data showed that 50% of the IgG, 62% of the IgA, 55% of the IgM and 41% of the IgD were VHIII-positive, and that certain "blocked" monoclonal immunoglobulins belonged to this subgroup. A preferential association of the VHIII antigenic determinant with the IgG1 and IgG3 subclasses was observed among IgG myeloma proteins while the preferential association was only observed with the IgG1 subclass when anti-Rh antibodies were studied. The VHIII subgroup exhibited nonallelic behavior.

Epitopes