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.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
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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.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
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