Target gene capture sequencing method for fast diagnosis and identification diagnosis of BHD syndrome and application

Abstract

The invention discloses a target gene capture sequencing method for fast diagnosis and identification diagnosis of BHD syndrome and application. The invention provides a purpose of a gene panel to preparation of a kit for diagnosing and identifying BHD syndrome. The gene panel comprises four genes including FLCN, SERPINA1, TSC1 and TSC2. The enriching and capture gene region of the gene panel comprises an FLCN whole-genome sequence and an exon and exon-intron junction 50bp region of three genes of SERPINA1, TSC1 and TSC2. Through primer design, the long fragment multiplex PCR (polymerase chainreaction) is performed for second generation sequencing; various kinds of mutation forms can be detected; the effective diagnosis and identification diagnosis of BHD can be realized. The method has the advantages that the detection cost is reduced; the detection sensitivity and efficiency are improved.

Description

technical field [0001] The invention belongs to the field of biotechnology and diagnostics, and in particular relates to a target gene capture sequencing method and application for rapid diagnosis and differential diagnosis of BHD syndrome. Background technique [0002] Primary spontaneous pneumothorax (PSP) refers to the pathological state in which gas enters the negative pressure pleural cavity without obvious trauma or underlying disease, causing lung compression. Gas enters the patient's pleural cavity, causing atelectasis and hypotension Oxygenemia, severe breathing difficulties may occur, life-threatening. Pathologically, it is mostly believed that it is caused by damage to the subpleural bullae. About 11.5% of PSP patients were reported to have a family history, indicating that the occurrence of pneumothorax in these patients is related to genetics. Some familial PSP can be attributed to certain genetic mutations, such as specific genetic monogenic diseases caused b...

AI Technical Summary

Problems solved by technology

However, the existing genetic diagnosis technology is relatively complicated, and if it is popularized in the clinic, it has the disadvantages of high cost but low return, relatively complicated operation and long time consumption.

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