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Standard product for detecting chromosome aberration and preparation method thereof

A technology of standard products and chromosomes, which is applied in the field of standard products for detection of chromosomal aberrations and its preparation, can solve problems such as high production costs, unsuitable for genetic testing, and unstable sources, and achieve low cost, wide application range, and strong compatibility Effect

Inactive Publication Date: 2018-01-30
BGI GENOMICS CO LTD
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0005] The present invention aims to solve the problems that the standard products used in the chromosomal aberration detection technology in the prior art have high production costs, unstable sources, and are not suitable for gene detection in the whole genome range

Method used

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  • Standard product for detecting chromosome aberration and preparation method thereof
  • Standard product for detecting chromosome aberration and preparation method thereof
  • Standard product for detecting chromosome aberration and preparation method thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0033] Embodiment 1, Theoretical normalization effect of the standard substance containing the mutant sample

[0034] 1. A mutant sample as a standard

[0035] 1. Preparation of standard products

[0036]A sample with a normal chromosome structure is recorded as a wild-type sample, and its genotype is recorded as wild type; a sample in which one of the two homologous chromosomes of the wild-type sample is deleted is recorded as a heterozygous deletion sample, and its genotype is It is recorded as the heterozygous deletion type; the wild-type sample whose two homologous chromosomes are deleted is recorded as the homozygous deletion sample, and its genotype is recorded as the homozygous deletion type; A sample with chromosomal duplication was recorded as a heterozygous 1-repeat sample, and its genotype was recorded as a heterozygous 1-repeat type; a wild-type sample with duplication of both homologous chromosomes was recorded as a homozygous 1-repeat sample. The genotype was r...

Embodiment 2

[0047] Embodiment 2, the actual standardization effect of the standard substance containing the mutant sample

[0048] 1. Heterozygous deletion mutation detection

[0049] 1. Preparation of standard products

[0050] Mix the DNA solutions of 1 male sample (XY) with the following different quantities: 0, 1, 4, 9, 19, and 39 female samples (XX) in equal amounts to obtain different Proportional mixed samples. The source of each sample is the whole blood sample of volunteers with normal phenotype, and the DNA of different numbers of female samples comes from different female individuals. The DNA solution of each sample is obtained by mixing the genomic DNA of the sample with double distilled water, the DNA quality of each sample in each mixed sample is the same, and the final concentration of each mixed sample is all the same (the final concentration is 25ng / μL). Mixed samples of different proportions were used as standards for heterozygous deletion mutation (X chromosome del...

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Abstract

The invention discloses a standard product for detecting chromosome aberration and a preparation method thereof. The standard product for detecting chromosome aberration comprises genome DNA of different normal individuals; the quantity of the individuals is at least 10, and is preferably 30. The standard product provided by the invention has various advantages that (1) the data stability of the standard product is high; the influence on the integral standardization effect of the standard product when the individual sample specific chromosome region in the standard product generates variationcan be eliminated; the data accuracy is improved; (2) the standard product can be used in different application fields of various detection technologies; the compatibility is high; the application range is wide; (3) the preparation method of the standard product is simple; only the equal-mass mixing of different individual DNA is needed; (4) the standard product cost is low; (5) mixed DNA in different batches can be different individuals; no influence is caused on the final quality of the standard product; (6) on the basis of the standard product, the specific chromosome aberrance positive standard product preparation can be performed.

Description

technical field [0001] The invention belongs to the field of biotechnology, and in particular relates to a standard product for detecting chromosomal aberration and a preparation method thereof. Background technique [0002] With the continuous development of genomics, the research on genes and health has become more and more in-depth, and the relevant knowledge and technology of genomics have been applied to clinical practice, such as preimplantation screening (PGS), non-invasive prenatal screening Screening (NIPT), prenatal diagnosis, tumor mutation detection and personal genome detection, etc. The purpose of genetic testing is mainly to detect whether an individual carries some gene variation with clear clinical significance. Gene variation is mainly divided into three categories, namely, single nucleotide variation (SNV), insertion-deletion variation (InDel, <50bp) and Chromosomal aberration. Among them, chromosomal aberrations mainly include deletions, duplications...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883
Inventor 郑建超陈文波张红云李云刘娜尹烨
Owner BGI GENOMICS CO LTD
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