TWO KINDS OF LIPOPROTEIN LIPASE (LPL) GENETIC MUTATIONS TO CAUSE HYPERTRIGLYCERIDEMIA AND LPL MUTATION DETECTION KIT FOR DIAGNOSING HYPERTRIGLYCERIDEMIA USING THE SAME

摘要

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