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Biomedical subjects

G A Geitvik

Publications and source records attributed to G A Geitvik.

3 recordsLinked to original sources

[The polyposis project].

A research project initiated in 1978 comprised establishment of a national polyposis registry, a genetic linkage study using classical and DNA markers, an in vitro study of fibroblasts for transformation parameters and chromosome instability, and a comparative study of DNA-RFLPs in cancer and constitutional tissue. The linkage study (to be reported elsewhere) confirmed the recently reported close linkage between the polyposis gene locus APC and D5S71. No in vitro test for the presence of the APC gene has been confirmed or revealed, but we detected increased chromosomal instability on a statistical basis and also recorded abnormal DNA-repair. As per 1. January 1988 the prevalence of adenomatosis of colon and rectum in Norway was 1/43,500. Among patients born in the period 1931-1950 the incidence at birth of developing the disease is 1/20,000 and the mutation rate is 1/72,000 per gamete per generation. In Norway new mutants in healthy families will comprise 1/3-1/2 of all new cases in the coming two decades, or one of 36,000 births.

Adenomatous Polyposis Coli

The Kidd (JK) blood group locus assigned to chromosome 18 by close linkage to a DNA-RFLP.

The close linkage between the PstI-restriction fragment length polymorphism (RFLP) disclosed by the L2.7 genomic DNA probe and the Kidd blood group locus is described. The maximum lod score is +8.53 at recombination fraction theta = 0.03. The upper probability limit of the recombination fraction is theta 1 = 0.11. The L2.7 probe, previously assigned provisionally to chromosome 17, is by the present study assigned to chromosome 18. This also assigns the Kidd blood group locus (JK) to chromosome 18. Accepting previous deletion mapping, the shortest regions of overlap (SRO) for JK is 18q11-12, whereas one of our hybrids assigns L2.7 to 18p11-pter, suggesting centromeric localisation of the linkage group. JK has been assigned previously to chromosome 2 because of its provisional linkage to IGK which in turn has been mapped to 2p12. Our own JK-IGK linkage data do in fact support the previous positive lod scores at high recombination fractions (total lods +4.12 at theta1 = 0.30). No obvious explanation for the conflicting gene mapping data is found.

Blood Group Antigens