MSH6 gene with mutation at 12759 site and application thereof

Abstract

The invention discloses an MSH6 mutant gene with g.[12759inTTAAG] mutation as a new pathogenic gene of HR. The mutation fragment sequence of the MSH6 mutant gene is shown as SEQ ID NO: 3. The diploidhomozygous genotype of the MSH6 mutant gene with the sequence shown as SEQ ID NO: 3 can cause human hypophosphorous rickets, and the diploid heterozygous genotype composed of any MSH6 mutant gene in the sequences shown as SEQ ID NO: 3, SEQ ID NO: 1, SEQ ID NO: 2 and SEQ ID NO: 4 can also cause human hypophosphorous rickets, and are autosomal recessive inheritance. On the basis, the invention provides two mutation detection kits based on PCR capture sequencing and conventional PCR and Sanger sequencing, which are of great significance for HR screening, diagnosis and fertility guidance, and areespecially conducive to completely eradicating the birth of HR children from the source. In addition, the disclosure of specific mutation of the MSH6 gene is also conducive to the exploration of HR pathogenesis and the development of therapeutic drugs and methods.

Description

technical field [0001] The invention relates to the field of medical molecular biology, in particular to a novel hypophosphatemic rickets pathogenic gene and a detection kit thereof. Background technique [0002] Hypophosphatemic rickets (Hypophosphatemic Rickets, HR) is the main type of vitamin D-resistant rickets. Due to the weakened recovery of phosphorus in the renal tubules of patients with HR, hypophosphatemia and vitamin D metabolism disorders will occur, and at least lead to hypophosphatemia. Saltemia can develop into rickets or osteomalacia in severe cases, and it will also affect hearing and teeth. Children's HR mainly manifests as growth retardation, short stature, rickets, bone and tooth deformities, osteoporosis, walking weakness, etc.; adult HR mainly causes osteomalacia and bone and joint deformities. Biochemical examination showed that the blood phosphorus of HR patients was significantly lower, and the alkaline phosphatase was significantly higher, and the ...

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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