Letter: Phenotypic manifestations of ataxia-telangiectasia.
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Biomedical subjects
Publications and source records attributed to D I Hoar.
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Repressor-negative mutants derived from R 100 were tested for genetic complementation. The results indicate that the active repressor is a multimer. The properties of an unusual repressor mutant are also discussed.
Mutants of the R factor R100 have been isolated that mediate high-frequency transfer of the R factor during conjugation. Complementation tests revealed two classes of mutants, operator-constitutive and repressor-negative. Some of the latter class were suppressible by amber and ochre suppressors. The results support a simple model of regulation for the control of R-factor-mediated piliation.
Adaptations of the techniques of modern molecular biology to prenatal diagnosis has opened new avenues for the detection of genetic diseases. We have taken advantage of the rapid adhesion of colony forming cells in cultured amniotic fluid samples to develop an improved method for molecular diagnosis. By employing the cell adherence regime sickle cell diagnosis using Mst II can be undertaken directly. In addition, hybridization with a cloned repetitive sequence that is of Y origin and has limited autosomal homology permits rapid fetal sexing in 3 to 4 days without compromising conventional cytogenetic or biochemical analysis. This combination of techniques provides a useful adjunct to convential prenatal genetic diagnosis in the second trimester.