Mutation site of XI-type osteogenesis imperfecta pathogenic gene FKBP10 and application of mutation site

Abstract

The invention relates to a mutation site of an XI-type osteogenesis imperfecta pathogenic gene FKBP10 and application of the mutation site. A whole genome resequencing technology is combined with comprehensive technologies of digital PCR, Sanger sequencing and the like; whole genome resequencing is carried out for clinic suspected osteogenesis imperfect patients; the condition that copy number variation exists between an exon 2 to an exon 4 of the FKBP10 gene and meanwhile, a heterozygous shear site mutation that c.918-3C is greater than G is discovered by combining with bioinformatics. Copy number variation and heterozygous shear mutation between the exon 2 to the exon 4 of the FKBP10 gene are further validated through digital PCR and a traditional PCB-based Sanger sequencing technology separately. Through discovery of the copy number variation and the heterozygous shear mutation, basis and reference are provided for discussing pathogenesis of XI-type osteogenesis imperfect and enriching and developing a diagnosis method for clinical diagnosis and treatment, and a basic basis is provided for early pathogenic gene screening and treatment.

Description

technical field [0001] The present invention relates to the mutation site of type XI osteogenesis imperfecta disease-causing gene FKBP10 and its application, specifically the mutation site of type XI osteogenesis imperfecta disease-causing gene FKBP10 and a kit for detecting pathogenicity using the site, which belongs to mutation The field of genetic testing technology. Background technique [0002] Osteogenesis imperfecta (OI) is a type of hereditary connective tissue disease caused by type I collagen synthesis and metabolism disorders. Clinical symptoms mainly include osteoporosis, easy fractures, and some patients may also have short stature and blue sclera. , Dentin hypoplasia, precocious otosclerosis, joint and ligament laxity, and muscle weakness. The individual incidence rate of patients is about 1 / 10000. [0003] Osteogenesis imperfecta has phenotypic and genetic heterogeneity, and its clinical manifestations range from mild and asymptomatic to severe skeletal defo...

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Problems solved by technology

At present, there are very few reports on patients with osteogenesis imperfecta with FKBP10 gene mutations, mainly point mutations, and there is no report on the copy number variation of this gene

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