Genetic studies on human lymphoblastoid cell lines: isozyme and cytogenetic heterogeneity in a cell line, with evidence for localization of the Pep A locus in man.

Annals of Human Genetics
E ArthurH Harris

Abstract

One hundred and thirty-three clones (60 mutagen treated, 73 controls) of the human male lymphoblastoid cell line F 137 have been examined for the electrophoretic pattern of more than 30 enzymes. In nine instances there was loss of activity of one allele of an X-linked or heterozygous autosomal locus. Seven of these involved the Pep A locus, and in every case the change was from the Pep A 2-1 phenotype to Pep A 2. Cytogenetic analysis of the parent line revealed a number of variants on the modal karyotype. On cloning, there appeared to be some selection for survival of non-modal cells. The proportions of the cytogenetically distinct populations within the bulk culture varied over a period of many months. There was a strong correlation in individual clones between loss of activity of the product of the Pep A1 allele and the presence in the cells of a 9/18 translocation. In addition there was one clone of phenotype Pep A 2 with a deletion of part of the long arm of chromosome 18. The data confirms the assignment of the Pep A structural locus to the distal half of the long arm of chromosome 18 and localizes it with some precision to the qter region. The Pep A 2 phenotype of the clones containing the 9/18 translocation could be the ...Continue Reading

References

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Citations

Dec 1, 1980·Journal of Medical Genetics·R M LewkoniaR H Haslam
Jan 1, 1987·Acta neurochirurgica·J D McKeanJ D Miller
Sep 29, 1978·Annals of the New York Academy of Sciences·M J VollR R Colwell
Apr 1, 1980·Journal of Neurosurgery·I M TurnbullW B Woodhurst
Sep 1, 1978·Canadian Journal of Genetics and Cytology. Journal Canadien De Génétique Et De Cytologie·J V Neel

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