Biomedical subjects

R D Wegner

Publications and source records attributed to R D Wegner.

57 records · Page 4Linked to original sources

PubMedDate not supplied

Localisation of a Fanconi anaemia gene to chromosome 9p.

Using homozygosity mapping in a large consanguineous family, we have localised to chromosome 9p a further gene for the autosomal recessive, genetically heterogeneous disease Fanconi anaemia (FA). This is the fourth of at least eight FA genes to be localised to a discrete chromosomal region. Previously localised genes are FAA, FAC and FAD. By analysis of assigned families we show that the gene localised to chromosome 9p is FAF, FAG or FAH, or a new FA gene, and refine the localisation to the 21 cM region between markers D9S1678 and D9S175.

Chromosome Mapping↗

PubMedDate not supplied

Clinical, cytological, and biochemical investigations in a case of an XX male.

Lymphocytes and fibroblasts of an XX male were investigated to evaluate the etiology of this trait. DNA extracted from lymphocytes was digested with restriction endonucleases to probe for male specific DNA. There was no indication of such DNA fragments. The X-linked steroid sulfatase showed an activity of female controls while H-Y antigen was found in concentrations comparable to male controls. Cytological examinations excluded a mosaic between 46,XX and 46,XY cells. With the "high resolution banding" technique no evidence was found for a chromosomal aberration in our patient. It is therefore concluded that a "de novo" gene mutation leading to male development is the most suitable explanation for the present case of an XX male.

Adult↗

PubMedDate not supplied

The effects of diagnostic ultrasonography on the frequencies of sister chromatid exchanges in Chinese hamster cells and human lymphocytes.

Human lymphocytes as well as Chinese hamster ovary cells were sonicated with either a fetal pulse detector (Siemens, Eucotone) or a compound scanner (Kretz, Combison 4100) at diagnostic energy levels. In one experimental series the cells were treated in the G1-phase of the cell cycle, in the other during late S-phase. The frequency of sister chromatid exchanges was determined in the metaphase chromosomes of the following mitosis. No significant increase in the frequency of SCEs per cell was observed as compared with the controls.

Animals↗