Looking for breakthrough ideas for innovation challenges? Try Patsnap Eureka!

MSH6 gene with mutated 12907th site, and application of MSH6 gene

A technology of mutating genes and pathogenic genes, applied in the field of new hypophosphatemic rickets pathogenic genes and its detection kits, can solve the problems of non-absorption and metabolism research reports

Active Publication Date: 2021-03-26
黄志玲
View PDF4 Cites 0 Cited by
  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

The protein encoded by the MSH6 gene belongs to the mismatch repair protein, also known as G / T mismatch binding protein (G / T mismatch binding protein, GTBp), which has the function of participating in DNA base mismatch repair, and can participate in the recognition and binding to the mismatch site After the repair point, the repair process of the mismatch site is completed under the action of other mismatch repair-related enzymes. Studies have shown that this gene may play a role in the occurrence and development of tumors, but there is no research report showing that the gene It is associated with HR, and there is no research report on the relationship between this gene and the absorption and metabolism of phosphorus in the body

Method used

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
View more

Image

Smart Image Click on the blue labels to locate them in the text.
Viewing Examples
Smart Image
  • MSH6 gene with mutated 12907th site, and application of MSH6 gene
  • MSH6 gene with mutated 12907th site, and application of MSH6 gene
  • MSH6 gene with mutated 12907th site, and application of MSH6 gene

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0020] Example 1 discovered a specific MSH6 mutant basis because of the pathogenic gene of HR

[0021] figure 1For the earliest HR family of MSH6 gene (home # 1), II1 and II2 (II1) (II1 is a single child and the parents have been dead). Among them, III1 and III2 brothers and sisters have shown short and critical symptoms, and there is a characteristic of hypophosphamia and urinary phosphorus increase, and the clinical diagnosis is HR. In addition to HR, III1 (prior discrete, with arrow) was diagnosed as a colorectal cancer III period at the age of 24, and the surgery was resected for the second half of the year. Family Survey Knowing # 1 of the group III1 and III2 in the family is HR patient, and III1 is diagnosed as colorectal cancer, with a certain pathogens and tendency. In order to guide the subsequent treatment of III1 in patients with colorectal cancer and analysis of potential genetic causes and assessing the risk of children with recycling HR in their families (mainly ref...

Embodiment 3

[0044] Example 3 HR population sample verification

[0045] Based on Embodiments 1 and 2, the MSH6 gene mutation is further detected in the HR population. 27 patients with clinical diagnosed HR (numbers S1-S27), 11 patients with 16 patients with male patients were collected in 11 cases of women, aged 26.3 years (4 years old). In the case where the PCR capture sequencing method (Table 1 and Table 2) adequately consent in these HR patients (2 ml of peripheral venous anticoagulation 2 mL) in the case of the PCR capture sequencing method (Table 1 and Table 2), the MSH6 gene mutation detection was collected. Indicated. Among them, only HR patients with S1-S17 detected a specific mutation containing the MSH6 gene, and both HR patients of S18-S27 did not detect any MSH6 gene mutation, indicating that there is still other known or unknown gene mutations to cause HR. The PHEX mutation gene on the X chromosome occurs. G. [7785-7788Delgtga], g. [7957NAA], g. [12759INTTAAA] and G. [12759INTTA...

Embodiment 4

[0052] Example 4 Application of specific MSH6 mutation gene

[0053] Such as Figure 8 Family (home # 7), both husband and wife are normal personnel, have given birth to HR children, now reproduce, and conduct birth in birth. The blood samples were collected by both husband and wife and HR were sequencing sequencing, found that the father I1 g. [12907incaGC] mutation (heterogeneous, genotype AD), while the mother I2 is a MSH6 gene. [12759INTTAAG] mutation (heterogeneous, genotype AC), while HR children II1 also g. [12759INTTAAG] mutation and g. [12907INCAGC] mutation (compound heterogeneous mutation, genotype CD), can be known These two MSH6 gene mutations are genetically inherited from their mother and father; except for the two specific mutations of the MSH6 gene, other obvious genetic mutations are not detected in this family member. The family is in line with genotypes, and the phenotype with the genotype, and the MSH6 mutant base is recognized by the pathogenic gene of HR, and...

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More

PUM

No PUM Login to View More

Abstract

The invention discloses that an MSH6 mutant gene which generates g.[12907inCAGC] mutation is a new pathogenic gene of HR, and the mutant fragment sequence of the MSH6 mutant gene is disclosed by SEQ ID NO:4. The diploid homozygous genotype of the MSH6 mutant gene which owns the sequence disclosed by the SEQ ID NO:4 causes generation of human hypophosphatemic rickets, a diploid heterozygous genotype formed by the MSH6 mutant gene which owns any one of the sequences disclosed by the SEQ ID NO:4 and SEQ ID NO:1- SEQ ID NO:3 also causes the generation of the human hypophosphatemic rickets, and inaddition, the human hypophosphatemic rickets are under autosomal recessive inheritance. On the basis, the invention provides two mutation detection kits on the basis of PCR capture sequencing and on the basis of conventional PCR and Sanger sequencing so as to generate an important meaning for HR screening, diagnosis and birth-giving guidance and be especially favorable for avoiding the birth of HRchild patients from the source. In addition, a revelation for the specific mutation of the MSH6 gene is also favorable for exploring HR pathogenesis and developing a treatment method and method.

Description

Technical field [0001] The present invention relates to the field of medical molecular biology, and more particularly to a new pathogenic gene and detection kit thereof. Background technique [0002] Hypophosphatemic rickets (HR) is the main type of anti-vitamin D sexually transmitted disease. Since the recovery capacity of phosphorus in HR patients has weakened, hypophosphorus and vitamin D metabolic disorders will cause low phosphoric acid. Saltemia, the development is developed into a disease or bone softening, and it will also accumulate hearing and teeth. Child HR is mainly manifested as a slow growth and development, short body, disease, bones and dental deformities, osteoporosis, walking failure, etc .; adult HR is mainly caused by cartilage and osteoarthrosis. Biochemical examination showed that the blood phosphorus in HR patients was significantly reduced, and the alkaline phosphatase was significantly increased, and there was a crude disease under X-ray examination. HR ...

Claims

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More

Application Information

Patent Timeline
no application Login to View More
IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 黄志玲
Owner 黄志玲
Who we serve
  • R&D Engineer
  • R&D Manager
  • IP Professional
Why Patsnap Eureka
  • Industry Leading Data Capabilities
  • Powerful AI technology
  • Patent DNA Extraction
Social media
Patsnap Eureka Blog
Learn More
PatSnap group products

Browse by: Latest US Patents, China's latest patents, Technical Efficacy Thesaurus, Application Domain, Technology Topic, Popular Technical Reports.

© 2024 PatSnap. All rights reserved.Legal|Privacy policy|Modern Slavery Act Transparency Statement|Sitemap|About US| Contact US: help@patsnap.com