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Nucleic Acids Research, 1990, Vol. 18, No. 18 5407-5411
© 1990

MOLECULAR BIOLOGY

Direct detection and automated sequencing of individual alleles after electrophoretic strand separation: identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase gene

Akira Hata, Margaret Robertson, Mitsuru Emi and Jean-Marc Lalouel*

Howard Hughes Medical Institute and Department of Human Genetics, University of Utah Health Sciences Center Salt Lake City, UT 84132, USA

*To whom correspondence should be addressed

Received June 26, 1990. Accepted August 15, 1990.

Large-scale screening by direct sequencing of DNA to detect molecular variants remains a laborious endeavor whose difficulty is compounded by heterozygosity. We show that mobility shifts of single-stranded DNA electrophoresed under nondenaturing conditions can be used not only to detect variants (Orita,M. et al., 1989, Genomics, 5, 874–879), but also to separate and sequence directly individual alleles. In this manner, we have identified a common variant of human lipoprotein lipase resulting from a nonsense mutation in exon 9 of the gene. Whether this variant is of functional significance remains to be determined.


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