| 摘要 |
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 asparganine 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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