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Biomedical subjects

D Stauffer

Publications and source records attributed to D Stauffer.

54 records · Page 3Linked to original sources
PubMed1991

Discordance of T-cell receptor beta-chain genes in familial multiple sclerosis.

Restriction fragment length polymorphisms of the T-cell receptor beta-chain gene were studied in DNA obtained from 96 individuals from 14 multiplex families with multiple sclerosis (MS). Thirty-four family members had definite MS and two had probable MS. Five normal family members had abnormal findings on cranial magnetic resonance imaging (MRI) scans. Linkage analysis was performed using the BglII and the KpnI polymorphisms. With penetrance values from 0.1 to 0.7, and altering the scoring of the normal individuals with abnormal findings on MRI scans from "unknown" to "affected," log of the odds scores between -4.59 to -12.76 were found for the autosomal dominant model. For the autosomal recessive model with a penetrance range from 0.1 to 1.0, the LOD scores ranged from -8.20 to -32.98. These findings do not support a direct role of T-cell receptor beta-chain gene in the inheritance of MS.

Alleles↗
PubMed1990

A unified discrete model of immune response.

In this paper we propose a unified model of immune response in terms of discrete automata describing the concentrations of the cells constituting the immune network. The model of normal immune response proposed by Kaufman, Urbain and Thomas and that of auto-immune response proposed by Weisbuch, Atlan and Cohen are special cases of this unified model. Moreover, this model also describes the immune response in patients infected by the human immunodeficiency virus (HIV), the virus that is known to cause Acquired Immune Deficiency Syndrome (AIDS).

Antibody Formation↗
PubMed1990

Mapping recessive ophthalmic diseases: linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q.

Usher syndrome is a heterogeneous group of autosomal recessive disorders that combines variably severe congenital neurosensory hearing impairment with progressive night-blindness and visual loss similar to that in retinitis pigmentosa. Usher syndrome type I is distinguished by profound congenital (preverbal) deafness and retinal disease with onset in the first decade of life. Usher syndrome type II is characterized by partial hearing impairment and retinal dystrophy that occurs in late adolescence or early adulthood. The chromosomal assignment and the regional localization of the genetic mutation(s) causing the Usher syndromes are unknown. We analyzed a panel of polymorphic genomic markers for linkage to the disease gene among six families with Usher syndrome type I and 22 families with Usher syndrome type II. Significant linkage was established between Usher syndrome type II and the DNA marker locus THH33 (D1S81), which maps to chromosome 1q. The most likely location of the disease gene is at a map distance of 9 cM from THH33 (lod score 6.5). The same marker failed to show linkage in families segregating an allele for Usher syndrome type I. These data confirm the provisional assignment of the locus for Usher syndrome type II to the distal end of chromosome 1q and demonstrate that the clinical heterogeneity between Usher types I and II is caused by mutational events at different genetic loci. Regional localization has the potential to improve carrier detection and to provide antenatal diagnosis in families at risk for the disease.

Blotting, Southern↗
PubMed1989

Benign familial neonatal convulsions linked to genetic markers on chromosome 20.

Recurrent seizures, commonly known as epilepsies, occur in 1.7% of the general population by age 40. The factors that initiate or underlie seizures are not well understood, but trauma, infectious disease and genetics have been implicated. An understanding of the molecular basis of seizures would shed light on the basic mechanisms of neuronal homeostasis and allow new therapeutic strategies to be explored. Here, we report the mapping of an epilepsy gene to a specific chromosomal region, on the basis of cosegregation of two closely-linked DNA markers with a form of epilepsy known as benign familial neonatal convulsions (BFNC2, 12120 in ref. 3). The linked markers confirm the genetic basis and autosomal dominant inheritance of this trait, and localize the gene causing BFNC in this family to the long arm of chromosome 20. This regional placement is the first step towards the isolation of a gene involved in neuronal activity in the human brain.

Chromosome Mapping↗
PubMed1988

Percolation thresholds in square-lattice Kauffman model.

In Kauffman's random Boolean network model for genetics, each gene is either on or off, depending in a fixed random way on whether K neighbor genes are on or off. Our computer simulation puts these genes on the sites of a square lattice and asks if the "off" genes, the "on" genes, the "oscillating" genes and the non-oscillating "stable" genes are percolating, i.e. form one connected network of neighboring sites. The percolation thresholds for stable and for oscillating genes are found to coincide numerically with the transition to chaos at p = 0.29. Up to one million sweeps through the lattice were made to find that agreement.

Animals↗
PubMed1987

The gene for familial polyposis coli maps to the long arm of chromosome 5.

The inherited genetic defect in adenomatous polyposis has been localized to a small region on the long arm of chromosome 5. Sixteen DNA marker loci were used to construct a linkage map of the chromosome. When five kindreds segregating a gene for adenomatous polyposis coli were characterized with a number of the markers, significant linkage was found between one marker and the disease gene. Linkage analysis determined the location of the defective gene within a primary genetic map of chromosome 5.

Chromosome Mapping↗
PubMed1987

Etiological heterogeneity in X-linked spastic paraplegia.

We describe a large family (K313) having 12 males affected with X chromosome-linked recessive hereditary spastic paraplegia (HSP). The disease phenotype in K313 is characterized by hyperreflexia and a spastic gait, but intelligence is normal. Carrier females have normal gait and unremarkable neurologic profiles. Eight widely spaced X-linked DNA markers were used to genotype 43 family members. In contrast to a published study of another family, in whom complete linkage of X-linked recessive HSP to distal chromosome Xq markers DXS15 and DXS52 was reported, we observed complete linkage with two DNA markers, pYNH3 and DXS17, located on the middle of the long arm of the X chromosome. These data have been combined with linkage data from a large reference panel of normal families to localize the new X-chromosome marker, pYNH3, and to provide evidence of significant locus heterogeneity between phenotypically distinct forms of X-linked recessive HSP.

Adult↗
PubMed1983

Gray-scale sonographic assessment of pancreatitis in children.

A total of 144 gray-scale sonograms were obtained in 110 children to evaluate the pancreas. The entire gland was adequately visualized in just over 86% of cases. The size, contour, echo pattern, and echo intensity were assessed. Either diffuse or focal enlargement of the pancreas was the most consistent finding in the 25 children with pancreatitis. In contrast to previous reports, decreased echo intensity was not a reliable indicator of inflammation. Numerous complications were detected on the 54 sonograms of these 25 patients. These complications included pseudocysts, lesser sac fluid collections, ascites, biliary obstruction, and hemorrhage. It is recommended that ultrasound be the initial imaging procedure in the evaluation of children with suspected pancreatic disease, and that it be used in conjunction with clinical and biochemical data.

Acute Disease↗