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
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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...
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