Pathogenic mutation of osteogenesis imperfecta disease and detection reagent of pathogenic mutation

Abstract

The invention discloses a pathogenic mutation of osteogenesis imperfecta and a detection reagent of the pathogenic mutation. According to a novel mutant COL1A1 gene, the mutated COL1A1 gene is a single point mutation c.1822G>A (chr17:48270211), a heterozygous mutation is pathogenic and in a mode of dominant heredity, the amino acid change is p.Gly608Ser, dyssynthesis of I-type collagen in connective tissue is caused by locus mutation of the p.Gly608Ser, and a lesion is formed. A kit for detection of osteogenesis imperfecta includes a reagent for detection of the 1822bpth locus of a COL1A1 geneCDS or a reagent for detection of the 608th amino acid locus of a COL1A1 protein. The pathogenic mutation (c.1822G>A on the COL1A1 gene) of the osteogenesis imperfecta disease is obtained, and the osteogenesis imperfecta disease can be diagnosed by detecting the mutation.

Description

technical field [0001] The invention belongs to the field of biomedicine and relates to a pathogenic mutation of osteogenesis imperfecta and a detection reagent thereof. Background technique [0002] Osteogenesis imperfecta (OI) is a rare congenital bone development disorder, also known as brittle bone disease, porcelain doll, or brittle bone-blue sclera-deafness syndrome. It is characterized by fragile bones, blue sclera, deafness, and joint laxity. It is a congenital hereditary pain caused by mesenchymal tissue hypoplasia and collagen formation disorders. Children are prone to fractures, and minor collisions can also cause serious fractures. At present, there is no special treatment for OI, mainly to prevent fractures. The efficacy of drug treatment is uncertain. Stem cell therapy and gene therapy methods need further research and identification, and they cannot be applied clinically in a short time. OI is hereditary and familial, but there are also a small number of sin...

AI Technical Summary

Problems solved by technology

The positional cloning strategy of gene linkage analysis is a classic method to identify the causative genes of monogenic diseases, but it also faces some difficulties: (1) It usually requires multi-generation families, and it is difficult to analyze small families and sporadic cases

(2) Sometimes the disease-causing loci cannot be located in multi-generational families

(3) It is difficult to screen out the correct disease-causing gene in the linkage region

There are many exons in the COL1A1 gene, so far, more than a hundred mutations have been reported, but the c.1822G>A gene mutation causing OI has never been reported or confirmed

Images