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. 1990 Sep 25;18(18):5407–5411. doi: 10.1093/nar/18.18.5407

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.

A Hata 1, M Robertson 1, M Emi 1, J M Lalouel 1
PMCID: PMC332217  PMID: 2216713

Abstract

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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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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