Localization of new genes and markers to the distal part of the human major histocompatibility complex (MHC) region and comparison with the mouse: new insights into the evolution of mammalian genomes.

We have refined and extended the map of the distal half of the human major histocompatibility complex. The map is continuous from HLA-E to 1000 kb telomeric of HLA-F and includes six new markers and genes. In addition, the corresponding sequences that were not previously mapped in the mouse genome have been located.

Non-homologous recombination within the major histocompatibility complex creates a transcribed hybrid sequence.

The P5-1 cDNA clone maps to the human MHC class I region (Vernet et al. 1993a). In this paper, we show that the P5-1 cDNA represents a chimeric transcript in which the first exon of an MHC class I gene has been spliced to an unrelated sequence.

Multiple sclerosis susceptibility: population and twin study of polymorphisms in the T-cell receptor beta and gamma genes region. French Group on Multiple Sclerosis.

Multiple sclerosis (MS) is a demyelinating auto-immune disease of the central nervous system with a suspected genetic component. Previous publications have demonstrated that MS susceptibility is influenced by Major Histocompatibility Complex (MHC) genes and recent studies have focused on additional susceptibility genes. The accumulation of activated T-cells in demyelinating MS lesions, the possible auto-immune mechanism of this disease and the functional relationship between MHC and T cell receptor (TCR) molecules support the hypothesis that TCR genes are good candidates to influence MS development.

A very conservative region of ApoB-100 in the putative binding region to the LDL receptor in the Toulouse population.

The nucleotide sequence of the putative binding site of ApoB-100 was studied in Hypercholesterolemic IIa patients and controls from the Toulouse area. Only one patient possesses the 3,500 mutation, which is responsible for defective familial hypercholesterolemia. The other individuals (including 39 patients and 14 controls) display the same nucleotide sequence although four nucleotide substitutions have been described in this region.

Polymorphism study of TCR alpha and gamma genes in insulin dependent diabetes mellitus (IDDM) multiplex families.

T-cell receptor (TCR) alpha and gamma genes polymorphisms were analysed by Restriction Fragment Length Polymorphism (RFLP) in 10 Insulin Dependent Diabetes Mellitus (IDDM) multiplex families. TCR alpha and gamma alleles distribution does not significantly differ between affected and non affected children. Furthermore there was no excess of C alpha or V gamma allele sharing in affected sib pairs.