Biomedical subjects

A Seawright

Publications and source records attributed to A Seawright.

23 records · Page 2Linked to original sources

PubMed1987

HRAS1-selected chromosome transfer generates markers that colocalize aniridia- and genitourinary dysplasia-associated translocation breakpoints and the Wilms tumor gene within band 11p13.

We show that chromosome-mediated gene transfer can provide an enriched source of DNA markers for predetermined, subchromosomal regions of the human genome. Forty-four human DNA recombinants isolated from a HRAS1-selected chromosome-mediated gene transformant map exclusively to chromosome 11, with several sublocalizing to the Wilms tumor region at 11p13. We present a detailed molecular map of the deletion chromosomes 11 from five WAGR (Wilms tumor/aniridia/genitourinary abnormalities/mental retardation) syndrome patients, three of which are at the limits of cytogenetic resolution but shown here to be molecularly distinguishable and overlapping. We can define ten distinct regions of the short arm of chromosome 11, five of which subdivide band 11p13. We also map two independent 11p13 translocation breakpoints to within the smallest region of overlap defined by the WAGR deletions. The first comes from a patient with familial aniridia, and the second from a patient with Potter facies and genitourinary dysplasia. The close similarities in map location and affected cell lineage for Wilms tumor and genitourinary dysplasia suggest that they may be alternative manifestations of mutation at the same locus.

Animals↗

PubMed1986

Use of catalase polymorphisms in the study of sporadic aniridia.

Catalase is known to map at chromosome 11p13. It is one of the closest known markers to the WAGR locus. Restriction fragment length polymorphisms (RFLP) of the catalase gene may be invaluable for studying rearrangements in somatic tumours, linkage in cases of familial Wilms tumour, and the relationship between sporadic and familial aniridia. We describe a catalase RFLP with two different enzymes and use these polymorphisms to exclude deletion of the catalase gene in patients with sporadic aniridia, including one who is known to have a deletion and another suspected of having a deletion.

Catalase↗

PubMed1985

Molecular analysis of chromosome 11 deletions in aniridia-Wilms tumor syndrome.

We describe five individuals who have constitutional deletions of the short arm of one chromosome 11, including all or part of the band p13. All of these individuals suffer from aniridia; two have had a Wilms tumor removed. We have established lymphoblastoid cell lines from these and in three cases constructed somatic cell hybrids containing the deleted chromosome 11. Analysis of DNA from the cell lines and hybrids with a cloned cDNA probe has shown that the catalase gene is deleted in four of five patients. The catalase locus must be proximal to the Wilms and aniridia-related loci. We have not detected a deletion of the beta-globin or calcitonin genes in any of these individuals; we conclude these genes are likely to be outside the region 11p12-11p15.4. In addition, we have used monoclonal antibodies in fluorescence-activated cell sorting analysis to measure expression in the hybrids of two cell surface markers encoded by genes that map to the short arm of chromosome 11. The genes for both of these are deleted in two individuals but are present in the individual with the smallest deletion.

Antigens, Surface↗

PubMed1982

Control of endometrial prostaglandin output in vitro during the estrous cycle of the guinea-pig: influence of estradiol 17-beta, progesterone, oxytocin and calcium ionophore A23187.

Agents influencing the output of prostaglandin F2 alpha (PGF2 alpha) from non-pregnant endometrium were investigated by in vitro incubation, for 5 and 19h, using mid-cycle (day 7), end of cycle (day 15), or ovariectomised guinea-pigs. Estradiol 17-beta (10 micrograms/ml) stimulated PGF2 alpha output 24h after incubation with endometrium (p less than 0.05). This stimulation was greater at mid-cycle. Progesterone (50 ng/ml) inhibited output of PGF2 alpha (p less than 0.05) in mid-cycle, end of cycle and ovariectomised guinea-pig cultures. Oxytocin (1 X 10(-5) u/ml) stimulated the output of PGF2 alpha at the end of the cycle, but not at mid-cycle. However, in the presence of estradiol 17-beta (10 micrograms/ml), oxytocin stimulation of mid-cycle PGF2 alpha output was observed. The calcium ionophore A23187 (5 micrograms/ml) stimulated PGF2 alpha synthesis from mid-cycle and end-of-cycle endometrium, and this stimulation resembled that caused by arachidonic acid (100 micrograms/ml), suggesting an action via substrate mobilisation. Co-culture of endometrium and myometrium did not influence endometrial PGF2 alpha or myometrial 6-oxo-PGF2 output. It is suggested that the steroid hormones act as coarse modulators of endometrial PGF2 alpha output, but more rapid changes may be achieved by oxytocin and agents that mobilise substrate supply, possibly via calcium ion fluctuations.

Animals↗

PubMed1981

Prostacyclin and thromboxane A2 in thrombotic thrombocytopenic purpura.

A study was conducted to find whether a deficiency in prostacyclin (prostaglandin I2; PGI2) is implicated in the pathogenesis of thrombotic thrombocytopenic purpura. Plasma samples from two patients with the disease before treatment and from 22 healthy controls were therefore assayed for concentrations of 6-oxo-PGF1 alpha and thromboxane B2, the stable metabolites of PGI2 and thromboxane A2, respectively. Neither of the patients responded to treatment, which in one case included an infusion of PGI2. Both patients had normal concentrations of 6-oxo-PGF1 alpha and thromboxane B2, thus implying that circulating amounts of PGI2 and thromboxane A2 were also normal. These findings suggest that 6-oxo-PGF1 alpha may be detectable in normal amounts in thrombotic thrombocytopenic purpura and that the condition need not be associated with a high concentration of thromboxane A2.

6-Ketoprostaglandin F1 alpha↗