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Biomedical subjects

M Skolnick

Publications and source records attributed to M Skolnick.

29 records · Page 2Linked to original sources
PubMed1980

Construction of a genetic linkage map in man using restriction fragment length polymorphisms.

We describe a new basis for the construction of a genetic linkage map of the human genome. The basic principle of the mapping scheme is to develop, by recombinant DNA techniques, random single-copy DNA probes capable of detecting DNA sequence polymorphisms, when hybridized to restriction digests of an individual's DNA. Each of these probes will define a locus. Loci can be expanded or contracted to include more or less polymorphism by further application of recombinant DNA technology. Suitably polymorphic loci can be tested for linkage relationships in human pedigrees by established methods; and loci can be arranged into linkage groups to form a true genetic map of "DNA marker loci." Pedigrees in which inherited traits are known to be segregating can then be analyzed, making possible the mapping of the gene(s) responsible for the trait with respect to the DNA marker loci, without requiring direct access to a specified gene's DNA. For inherited diseases mapped in this way, linked DNA marker loci can be used predictively for genetic counseling.

Chromosome Deletion↗
PubMed1979

Hereditary hemochromatosis. Phenotypic expression of the disease.

Previous studies have shown that hemochromatosis is an inherited, autosomal-recessive disease and that the gene is closely linked to the HLA locus on chromosome 6. We obtained a lod score for linkage of +9.8 for a recombination fraction of 0.0 and a gene frequency of 0.056, the frequency estimated in this population. We studied the phenotypic expression of the disease in 261 members of 10 pedigrees. In heterozygotes over 20 years of age, there was an intermediate increase in transferrin saturation and a limited increase in hepatic iron but no clinical manifestations. In male heterozygotes, the average amount of iron in the liver increased from about 0.2 to 1.3 g. Abnormal homozygotes accumulated iron progressively with time, with men accumulating about 18 g in the liver. All measurements of iron status were increased in abnormal homozygotes. Hemochromatosis is inherited as an autosomal-recessive disease, with partial biochemical expression in heterozygotes.

Adolescent↗
PubMed1979

Genetic linkage between hereditary hemochromatosis and HLA.

A large Mormon pedigree of a proband with hemochromatosis was studied, using transferrin saturation as the quantitative phenotypic trait. The analysis indicated that the inheritance of hemochromatosis was recessive, with partial expression in some heterozygotes. The lod score of 6.88 (theta = .0) was strongly indicative of linkage between the hemochromatosis locus and the human major histocompatibility (HLA) loci.

Chromosome Mapping↗
PubMed1975

Erythema gyratum repens with metastatic adenocarcinoma.

A patient with Erythema Gyratum Repens (EGR) had a marked increase of his eruption, with uncontrollable pruritus that was unresponsive to steriod therapy. This culminated in an exfoliative dermatitis. A metastatic, undifferentiated adenocarcinoma was removed following a right-sided craniotomy. The patient then had complete cessation of his pruritus, with moderate improvement of his eruption. All the reported cases of EGR were reviewed in terms of the source of the malignant disorder. The relationship between the time of onset of the EGR and the discovery of the malignant disorder, as well as the effect of treatment of the malignant condition on the course of the EGR, was studied. The data suggest a highly probable relationship between the two.

Adenocarcinoma↗