Human HLA region gene copy number variation detection method

Abstract

The invention discloses a human HLA region gene copy number variation detection method. The method includes: firstly, acquiring human tissues, blood or other body fluid genomes as samples, hybridizing the samples with CytoscanHD chips, washing the chips after hybridization is finished, and performing data collection in a data collection system of a GCD3000 system to generate CEL files; secondly, inputting the CEL files into CHAS software to perform primary quality control, importing Cychp files generated by the chips qualified in quality control into the CHAS software, and screening out a target marker according to three indexes including copy number characteristics, marker quantity and CNV gain and CNV loss fragment sizes. By precision of the CytoscanHD chips in detection of copy number variation, a direct and simplified analysis process of the CHAS software and specific setting of CHAS software intervals, accuracy in HLA region gene copy number variation detection is greatly improved, obtained data are higher in reliability and trueness, and prevention of habitual abortion and prenatal diagnosis are guaranteed significantly.

Description

[0001] Technical field: [0002] The invention belongs to the field of gene diagnosis, and in particular relates to a method for detecting gene copy number variation in the human HLA region. [0003] Background technique: [0004] The Human Leukocyte Antigen (HLA) gene is located on the short arm of human chromosome 6 and is the most polymorphic gene found in humans. HLA genes are divided into three categories: class I, class II and class III genes. Among them, class I includes: HLA-A, HLA-B, HLA-C genes; class II includes: HLA-DRB1, HLA-DQB1, HLA-DPA1, HLA-DPB1 genes. The HLA system is the most complex polymorphic system known to the human body. Since the discovery of the first HLA antigen in 1958, by the 1970s, HLA has become an important emerging research field in immunogenetics, immunobiology and biochemistry. Now, the composition, structure and function of its system have been basically clarified, and its physicochemical properties and biological functions have been cla...

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Problems solved by technology

At present, although copy number variation detection technologies such as PCR and high-throughput sequencing have been developing, due to the particularity of the DNA sequence in the HLA region and the characteristics of GC content, not any copy number variation detection technology is suitable. Therefore, for The technology for detecting copy number variation in HLA region, the applicant provides a method for detecting gene copy number variation in human HLA region

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