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Biomedical subjects

M F Hansen

Publications and source records attributed to M F Hansen.

98 records · Page 6Linked to original sources
PubMedDate not supplied

Loss of alleles at loci on human chromosome 11 during genesis of Wilms' tumour.

Evidence that recessive cellular alleles at specific chromosomal loci are involved in tumorigenesis has been recently shown by work on tissues from patients with retinoblastoma, a neoplasm of embryonic retina whose predisposition is inherited as an autosomal dominant trait. A comparison of germ-line and tumour genotypes at loci on human chromosome 13, defined by restriction fragment length polymorphisms, showed that loss of the chromosome bearing the wild-type allele at the Rb-1 locus occurred frequently in the development of retinoblastoma. We report here results of similar studies of another embryonal neoplasm, Wilms' tumour of the kidney. Examination of germ-line and tumour genotypes from seven patients showed that five cases were consistent with the presence on human chromosome 11 of a locus in which recessive mutational events are expressed after abnormal chromosomal segregation events during mitosis.

Alleles↗
PubMedDate not supplied

Loss of heterozygosity in three embryonal tumours suggests a common pathogenetic mechanism.

Children with the Beckwith-Wiedemann syndrome have a greatly increased potential for the specific development of the embryonal tumours hepatoblastoma, rhabdomyosarcoma and Wilms' tumour. Data obtained with molecular probes suggest that the association between these disparate, rare tumour types reflects a common pathogenetic mechanism that entails the somatic development of homozygosity for a mutant allele at a locus on human chromosome 11.

Abnormalities, Multiple↗
PubMedDate not supplied

A previously unknown polymorphism located within the RB1 locus only present in Asian individuals.

Although the retinoblastoma susceptibility locus (RB1) spans some 180 kb in the human and has been fully sequenced, few polymorphisms within the locus have been identified and none have been shown to vary in allelic frequency in different populations. We have identified a previously unknown polymorphism within intron 18 of the retinoblastoma susceptibility gene that is present in Asians but not in the other ethnic groups examined. This polymorphism eliminates a Tsp5091 restriction enzyme site, making it easily detectable for use in linkage analysis and genetic population studies.

Asia↗