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NEW LIPOPROTEIN LIPASE (LPL) GENE DELETION MUTATION CAUSING HYPERTRIGLYCERIDEMIA AND KIT FOR DETECTING LPL MUTATION FOR DIAGNOSIS OF HYPERTRIGLYCERIDEMIA BY USING THE SAME
NEW LIPOPROTEIN LIPASE (LPL) GENE DELETION MUTATION CAUSING HYPERTRIGLYCERIDEMIA AND KIT FOR DETECTING LPL MUTATION FOR DIAGNOSIS OF HYPERTRIGLYCERIDEMIA BY USING THE SAME
PROBLEM TO BE SOLVED: To accumulate LPL gene mutation in Japanese for more easily performing LPL gene analysis useful for the clarification of the cause of hypertriglyceridemia and for the tailor-made prevention of hypertriglyceridemia, and to provide a specificity diagnosis kit necessary for the genetic diagnosis targeting the mutation.;SOLUTION: A large deletion mutation of about 54 kb containing exon 1 and extending to a part of intron 1 (accurately the deletion mutation composed of 53,918 bases from the 7,594,420th to 7,648,337th bases of NT_030737.9 sequence) was confirmed from a new 5' adjacent region of a mutant LPL gene in an LPL gene of a Japanese hypertriglyceridemia subject A. The invention provides a probe for detecting the mutation based on the base sequence of the mutant LPL gene and provides an easy method for the diagnosis of primary hypertriglyceridemia by amplifying the base sequence containing the mutation part and detecting the mutation and a kit for the diagnosis.;COPYRIGHT: (C)2009,JPO&INPIT
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