Method for determining gene mutation sites in children with pulmonary interstitial pneumonia

Abstract

The invention discloses a method for determining a gene mutation site related to child interstitial pneumonia. The method comprises the following steps: (1) acquiring peripheral blood, wherein the peripheral blood is from an individual clinically diagnosed as having the child interstitial pneumonia; (2) extracting a genome DNA from the peripheral blood; (3) amplifying the genome DNA in a PCR manner by virtue of a specific amplification primer pair, thereby obtaining a PCR amplification product; (4) performing primary sequencing on the PCR amplification product to obtain a primary sequencing result; (5) filtering the primary sequencing result to obtain a filtered primary sequencing result; (6) comparing the filtered primary sequencing result with a reference sequence, and determining the gene mutation site related to the child interstitial pneumonia on the basis of a comparison result; (7) performing secondary sequencing on a gene containing the mutation site for verification. A next generation sequencing method is adopted, and compared with conventional first generation sequencing, the method has the advantages of large flux, short time, high accuracy and rich information.

Description

technical field [0001] The invention relates to the field of biotechnology, in particular to a method for determining a gene mutation site of a disease, more specifically to a method for determining a gene mutation site for children with pulmonary interstitial pneumonia. Background technique [0002] Interstitial pulmonary disease / diffuse lung disease (ILD / DPLD) is a group of heterogeneous diseases with different etiologies but similar clinical, imaging and histopathological features, currently considered to include more than 200 diseases. Children, especially infants, ILD / DPLD (chILD / chDPLD) have both similarities and specificities with adults. For example, the etiology and prognosis of chILD are significantly different from those of adults. Usually, adults are commonly diagnosed as primary Interstitial pulmonary fibrosis (IPF) is almost absent in children, and the prognosis of chILD is generally better than that of adults. [0003] The incidence rate of interstitial lung ...

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Problems solved by technology

[0005] However, at this stage, the method of determining the gene mutation sites of children with pulmonary interstitial pneumonia needs further research

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