A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters

Article Abstract:

A major locus for autosomal recessive retinitis pigmentosa (arRP) has been identified on 6q between markers D6S257 and D6S1644. It was established by homozygosity mapping in inbred families of chromosomal regions containing gamma-aminobutyric acid-receptor clusters. RP has extensive allelic and nonallelic genetic herogeneity. It appears that 10-20% of Spanish families affected by typical arRP may have linkage to the new locus. Of the cases of the disease in Spain, 47% present autosomal recessive inheritance.

author: Antinolo, Guillermo, Ruiz, Agustin, Borrego, Salud, Araneta, Irene
Health aspects, Retinitis pigmentosa

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Age-dependent inclusion of sex chromosomes in lymphocyte micronuclei of man

Article Abstract:

Inclusion of sex chromosomes in lymphocyte micronuclei of men in an age-dependent way is discussed on the basis of studies using cultured lymphocytes from 10 men in two age groups, 21-19 and 51-55. For the first time it has been possible to assess micronucleation of the Y chromosome and the (active) X chromosome, both in the same cells, through use of an X-chromosome-specific DNA probe simultaneously detecting the Y chromosome.

author: Catalan, J., Autio, K., E. Kuosma, Norppa, H.
Finland, Women, Demographic aspects, DNA probes, Men, Sex chromosomes

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Unlinking tumor necrosis factor biology from the major histocompatibility complex: lessons from human genetics and animal models

Article Abstract:

Tumor necrosis factor (TNF) biology and the major histocompatibility complex in humans are discussed relative to linkage, with the TNF (ital) gene within the MHC gene cluster, that can make interpretation of studies in animal models difficult. TNF seems to have a significant role in promotion of inflammation, likely in a mode identified from TNF (ital) gene-targeted mice.

author: Ruuls, Sigrid R., Sedgwick, Jonathon D.
Autoimmune diseases, Inflammation, Human genetics, Cell cycle, Mice, mutant strains, Mutant mice, Biological models, Tumor necrosis factor, Animal models in research, Animal research models, Histocompatibility

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subjects list: Research, Usage, Genetic aspects, Spain, Chromosome mapping, Genetic disorders, Statistical Data Included, United States, Lymphocytes
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