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

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 ...

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

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