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TWO KINDS OF LIPOPROTEIN LIPASE (LPL) GENETIC MUTATIONS TO CAUSE HYPERTRIGLYCERIDEMIA AND LPL MUTATION DETECTION KIT FOR DIAGNOSING HYPERTRIGLYCERIDEMIA USING THE SAME
TWO KINDS OF LIPOPROTEIN LIPASE (LPL) GENETIC MUTATIONS TO CAUSE HYPERTRIGLYCERIDEMIA AND LPL MUTATION DETECTION KIT FOR DIAGNOSING HYPERTRIGLYCERIDEMIA USING THE SAME
PROBLEM TO BE SOLVED: To accumulate LPL genetic mutations in Japanese so as to more simply carry out cause elucidation of hypertriglyceridemia and LPL gene analysis useful for tailor-made prevention of hypertriglyceridemia and to obtain a specific diagnostic kit necessary for gene diagnosis targeting the mutations.;SOLUTION: The simple primary hypertriglyceridemia diagnosis method comprises finding new mutations S251F and C283F in an LPL gene of subject of Japanese hypertriglyceridemia, providing a probe for detecting the mutations based on the base sequence of LPL gene having mutations in newly found exon 6 and amplifying a base sequence containing a mutation part to detect mutation. The diagnostic kit is obtained.;COPYRIGHT: (C)2006,JPO&NCIPI
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