Isolated familial hypertriglyceridemia disease lpl novel mutation causative gene and kit for detecting the gene

Abstract

The invention belongs to the field of medical molecular biology and particularly relates to an LPL (lipoprotein lipase) novel mutant pathogenic gene of separated familial chylomicronemia syndrome and a kit for detecting the same. Compared with nucleotide sequences, shown in the SEQ ID NO.1 of a gene of a coded wild LPL protein, a 928-th basic group of a nucleotide sequence of a nucleotide sample of the LPL novel mutant pathogenic gene is subjected to a C>T mutation; the nucleotide sample of the LPL novel mutant pathogenic gene is a polymer of manually separated or synthesized DNA, double-stranded DNA, RNA or DNA and RNA. By the use of the LPL novel mutant pathogenic gene, an existing LPL protein mutation database is continually completed, the mechanism of enzyme activity decline caused by LPL mutation is further understood, and basis can be provided for the observation on curative effect and the dynamic observation on diseases. The LPL novel mutant pathogenic gene and the kit play an important role in the field of medical treatment and detection.

Description

technical field [0001] The invention belongs to the field of medical molecular biology, and in particular relates to an isolated LPL new mutation pathogenic gene of familial hypertriglyceridemia disease and a kit for detecting the gene. Background technique [0002] Familial chylomicronemia syndrome (FCS, also referred to herein as hypertriglyceridemia) is a rare autosomal recessive metabolic defect manifested by a deficiency of lipoprotein lipase , to increase the concentration of triglycerides and chylomicrons in the blood. Lipoprotein lipase deficiency is very rare, about one to two cases per million people, the blood in the patient's body cannot bear any fat particles, and this type of patient fasts normal meals in terms of diet, because the patient is prone to various acute Pancreatic cancer condition. Its main features are: severe hypertriglyceridemia accompanied by one or more of the following clinical syndromes: 1. hypertriglyceridemia accompanied by abdominal pain...

AI Technical Summary

Problems solved by technology

However, although the existing research on the pathogenic mechanism of FCS has been significantly clearer than before, there are still a considerable number of unknown pathogenic gene loci

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