Biomedical subjects

J Donald

Publications and source records attributed to J Donald.

26 records · Page 2Linked to original sources

PubMed1988

Analysis of linkage relationships of X-linked retinitis pigmentosa with the following Xp loci: L1.28, OTC, 754, XJ-1.1, pERT87, and C7.

A number of variants of X-linked retinitis pigmentosa (XLRP) have been described. In one variant, listed in the McKusick (McK) catalogue (McKusick 1983) as entry no. 30320, the heterozygotes exhibit a golden metallic or tapetal reflex. Three large pedigrees segregating for XLRP with the characteristic tapetal reflex in the heterozygotes were examined, and the linkage between the XLRP locus and Xp loci, L1.28, OTC, 754, XJ-1.1, pERT87 and C7 was measured. The strongest linkage was found to be between the XLRP locus and OTC. In addition, recombinational evidence drawn from the three pedigrees suggests that the XLRP locus is distal to L1.28 and proximal to 754. This putative location of the XLRP gene between L1.28 and 754 taken together with the tight linkage to OTC, a locus already located between L1.28 and 754, leads us to propose a gene order of centromere-L1.28-OTC/XLRP-754-telomere.

DNA↗

PubMed1988

Two different genes for X-linked retinitis pigmentosa.

Linkage analysis was carried out in three large multigenerational kindreds with X-linked retinitis pigmentosa using DNA markers on Xp. About 10% recombination has been found between the retinitis pigmentosa locus (RP2) and the marker locus DXS7, assigned to band Xp11.3, which was reported earlier to be closely linked to RP2 in several independent families. In the kindreds described in this paper, however, RP2 shows close linkage and no recombination with the marker loci OTC and DXS148, both assigned to Xp21, indicating that, contrary to previous linkage studies, there is evidence of an RP locus distal to DXS7. This suggests that X-linked retinitis pigmentosa is genetically heterogeneous, i.e., caused by mutations at different loci.

Female↗

PubMed1984

The implications of genetic variation in human pathology.

Each human cell contains enough DNA to code for several million proteins. As a result of the technical advances which are broadly described as 'genetic engineering', each of these sequences can be isolated and purified in large amounts, free from those surrounding it in the genome. The sequences are not identical from person to person, nor even for each of a pair of chromosomes for a single person, but contain many variations. These include single base changes in both coding and non-coding regions, deletions, insertions and rearrangements. Using these changes as markers, the molecular geneticist can compare the structure and expression of normal and mutated human gene sequences and follow their inheritance in families.

Cloning, Molecular↗

PubMed1980

Arterial connective tissue changes and distribution of 125I-labelled low density lipoprotein in hypertensive pigs.

Young pigs with hypertension of 10 weeks duration, resulting from cellophane perinephritis, were injected with 125I-labelled low-density lipoprotein ([125I]LDL) before being killed 24 h or 48 h later. Intimal thickening and increased acid mucopolysaccharide were demonstrated in the aortas and major arteries of the hypertensive animals. Increased accumulation of [125I]LDL was observed in the inner media beneath areas of intimal thickening. It is suggested that the primary effect of hypertension in atherosclerosis is to produce structural changes in arterial connective tissue which allow increased accumulation of LDL by altering the permeability and binding properties of the arterial wall.

Animals↗

PubMed1978