Lipoprotein lipase mutants

Details Lipoprotein lipase mutants Lipoprotein lipase mutants

C - Chemistry, Metallurgy

07

H

195/1.12, 150/8.

C07H 21/00 (2006.01) C12N 9/20 (2006.01) C12N 15/55 (2006.01) C12Q 1/68 (2006.01)

Patent

CA 2035177

This invention provides DNA from exon 5 and 6 of the human lipoprotein lipase (LPL) gene each containing missense mutations resulting in the substitution of leucine at residue 207 and asparagine at residue 250, respectively, in LPL. Oligonucleotide probes for the two mutations are provided. Methods and kits are provided for screening patients for the mutations. The methods are useful for screening for LPL deficiency and for carriers, particularly in the French Canadian population.

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