Chromosome fragments with alphoid sequences derived from a pseudoisodicentric Y chromosome.
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Centromere↗
Biomedical subjects
D Valverde
Publications and source records attributed to D Valverde.
Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families.
Autosomal recessive retinitis pigmentosa (ARRP) is a degenerative disease of photoreceptors in which defects in the genes encoding rhodopsin, the beta subunit of rod phosphodiesterase (PDEB) and, recently, in the gene for rod cGMP-gated channel, have been reported. However, detailed genetic involvement has not been ascertained in the great majority of cases. Recoverin, another member of the light transduction pathway, is a candidate gene for ARRP. We report the first analyses of the involvement of the recoverin gene (RCV1) in 42 Spanish ARRP families. Linkage and homozygosity studies with an intragenic polymorphism and the close markers D17S945 and D17S786 ruled out RCV1 as the cause of ARRP in 38 pedigrees. In the four remaining families, single strand conformation polymorphism analysis of the recoverin-coding region detected no mutations in the parents or in the affected members. These results strongly suggest that mutations in the RCV1 gene are not responsible for ARRP in these families.
Base Sequence↗
Retinitis pigmentosa in Spain. The Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa.
Retinitis pigmentosa is a term commonly given to a group of inherited and progressive disorders which affect the photoreceptors of the retina. As part of an ongoing research programme throughout Spain, clinical, epidemiological, and genetic studies have been carried out on these diseases. Here, we report the relative frequencies of the different genetic types in 503 non-syndromic and 89 syndromic RP families of Spanish origin. The most frequent syndromic RP forms were Usher syndrome type 1 (20/89 families = 30%) and Usher syndrome type 2 (44 families = 49%). Among non-syndromic RP forms, 12% were autosomal dominant, 39% autosomal recessive and 4% X-linked. Forty-one percent were isolated or simplex cases and in 4% the genetic type could not be established.
Female↗
Genetic fine localization of the arrestin (S-antigen) gene 4 cM distal from D2S172.
Arrestin is a component of the light transduction cascade that takes place in the outer segment of retinal rods. In situ hybridization and linkage analysis have localized the arrestin gene to a region of 50 cM between CRYG alpha and D2S23/D2S55 on chromosome 2q24-37. We have performed pairwise and multipoint linkage analysis between arrestin and four highly polymorphic markers from this region. The results indicate tight linkage between the gene and the microsatellite D2S172 (Zmax = 9.25 at theta = 0.038). This fine localization of the gene should provide a useful tool for cosegregation analyses involving the arrestin gene.
Antigens↗
[Mixed hepatoblastoma in an adult].
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Carcinoma, Hepatocellular↗
A simple method for detecting anti-tubular membrane antibodies in rat lymphoid cell cultures.
The application of enzyme-linked immunosorbent assay (ELISA) to short cell cultures has proved to be useful in detecting immunoglobulins secreted to supernatants. This paper describes a modified ELISA to detect and quantify the production of specific anti-tubular basal membrane IgG released in vitro by lymphoid cells from Brown Norway rats with tubulointerstitial nephritis. This method uses 4-methyl-umbelliferyl-phosphate as substrate and allows to detect approximately concentrations 100 times less than the detectable concentration of visibly colored substrates. This method eliminates the need for mitogens, is precise and reproducible and the use of 4-methyl-umbelliferyl-phosphate allows a substantial increase in sensitivity.
Animals↗