Mono-allelic mutation analysis for identifying germline mutation

Details Mono-allelic mutation analysis for identifying germline mutation Mono-allelic mutation analysis for identifying germline mutation

1995-08-23

1998-05-12

Campbell, Eggerton A.

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving antigen-antibody binding, specific binding protein...

435 6, G01N 33567, C12Q 168

Patent

active

057503524

ABSTRACT:
A diagnostic strategy for detection of inherited diseases caused by germline mutations is based on somatic cell hybridization. Each allele of a human gene involved in the inherited disease is isolated in a somatic cell hybrid. The products of the isolated human allele are then observed in the absence of the other allele of the human.

REFERENCES:
Patterson et al., "Biochemical Genetic Analysis of Pyrimidine Biosynthesis in Mammalian Cells", Somatic Cell Genetics 3(5):483-495 (1977).
Wasmuth et al., "Linkage in Cultured Chinese Hamster Cells of Two Genes, emtB and leuS, involved in Protein Synthesis and Isolation of Cell Lines with Mutations in Three Linked Genes", J. Cell Biol. 87:697-701 (1980).
Acta Universitatis Oulvensis Sereia Leila P (214) 4-54 1990.
Mammalian Genome Brown et al. 5(7):434-437 (1994).
New England J. of Med. Rustgi 334(25):1694-1702 (1994).
Nature Genetics, Ishioka et al. 5: 124-129 (1993).

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