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

A technology of hypertriglyceridemia and pathogenic gene, applied in the field of medical molecular biology

Active Publication Date: 2018-08-21
THE AFFILIATED HOSPITAL OF QINGDAO UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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

Method used

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

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Experimental program
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Effect test

Embodiment 1

[0040] A new LPL mutation-causing gene of isolated familial hypertriglyceridemia disease, characterized in that the nucleotide sequence of the nucleic acid sample of the LPL new mutation-causing gene is the same as the gene encoding wild-type LPL protein, Compared with the nucleotide sequence shown in SEQ ID NO:1, the 928th base has a T>C mutation, and the nucleic acid sample of the LPL mutation-causing gene is artificially isolated or synthesized single-stranded DNA, double-stranded Polymers of DNA, RNA, or DNA and RNA.

[0041] The new mutant gene of LPL gene is closely related to the pathogenesis of primary crystal-like retinal degeneration disease, so by detecting whether the new mutant gene exists in the biological sample, it can effectively detect whether the biological sample is susceptible to familial hypertriglyceridemia syndrome, and by detecting whether these mutants exist in the organism, it can effectively predict whether the organism is susceptible to familial hy...

Embodiment 2

[0063] Exome Sequencing of Patients Phenotyped with Hypertriglyceridemia Using Sanger Sequencing

[0064] In 2014, a typical family with familial hypertriglyceridemia was collected in Zhucheng, Weifang, Shandong. A total of 5 people participated in the research of the present invention, including 2 patients, 2 normal members, and 1 person who died. All family members participating in the research of the present invention signed the informed consent. The proband was a 29-year-old female. Acute pancreatitis had occurred repeatedly in the past ten years, about 8-11 times per year. Laboratory tests showed that TG was up to 36mmol / l, and blood lipids were usually about 20mmol / l. The phenotype of hypertriglyceridemia in this family showed a recessive inheritance pattern. Such as figure 1 The pedigree of the family with familial hypertriglyceridemia in this case is shown. Such as figure 2 Shown is a schematic diagram of the structure of the LPL gene.

[0065] The exome sequenc...

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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...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12N15/12C07K14/47C12Q1/6883
Inventor 侯旭王颜刚刘营
Owner THE AFFILIATED HOSPITAL OF QINGDAO UNIV
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