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Literature DB >> 1247020

Evidence for "deleted" or "silent" genes homozygous at the locus coding for the constant region of the gamma3 chain.

G Lefranc, L Rivat, C Rivat, J Loiselet, C Ropartz.

Abstract

Three uncommon stable Gm haplotypes, Gm3;23;--, Gm1,2,17;..;-- and Gm1,17;..;-- have been transmitted through 3 generations of two related Lebanese and Syrian families. No pathological consequence was noted in seven individuals, aged 14--65, whose sera were deficient for all the allotypes carried by the IgG3 chains. Among the different genetic events which could have produced these haplotypes (alteration of a regulatory gene, point mutation, gene hybridization, gene deletion), it appears that a structural deletion is the most probable explanation. The observed data can be explained by either a partial or a total deletion of the constant portion of the IgG3 heavy chain.

Entities: Chemical Gene

Mesh：

Substances：

Year: 1976 PMID： 1247020 PMCID： PMC1684896

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

23 in total

Review 1. Biochemical controls of meiosis.

Authors: H Stern; Y Hotta
Journal: Annu Rev Genet Date: 1973 Impact factor: 16.830

Review 2. The synaptinemal complex.

Authors: M Westergaard; D von Wettstein
Journal: Annu Rev Genet Date: 1972 Impact factor: 16.830

Evidence for "deleted" or "silent" genes homozygous at the locus coding for the constant region of the gamma3 chain.

Review 1. Biochemical controls of meiosis.

Review 2. The synaptinemal complex.

3. Fine and coarse controls of genetic recombination.

4. Evidence for a nonstructural gene-level defect in "acquired" hypogammaglobulinemia.

5. Two unusual Gm alleles: their implications for the genetics of the Gm antigens.

6. Immunochemical quantitation of antigens by single radial immunodiffusion.

7. Recent advances in heptoglobin and transferrin genetics.

8. Inheritance of Gm(g) and a gene complex Gm a Gm g weak.

9. Genetic control of deficiencies in gamma-G subclasses observed among families with hypogammaglobulinaemia.

10. Uncommon Gm gene complexes.

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

2. A human immunoglobulin IGHG3 allele (Gmb0,b1,c3,c5,u) with an IGHG4 converted region and three hinge exons.

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

4. Multiple gene deletions within the human immunoglobulin heavy-chain cluster.

5. Selective deficiency of immunoglobulin A2.

6. Linkage and sequence homology of two human immunoglobulin gamma heavy chain constant region genes.

7. Common and uncommon immunoglobulin haplotypes among Lebanese communities.

8. Human immunoglobulin heavy chain A2 gene allotype determination by restriction fragment length polymorphism.

9. Gm and Km(Inv) frequencies in two Roumanian populations.

10. Detection of IgA heavy chain constant region genes in IgA deficient donors: evidence against gene deletions.