A method for detecting DNA copy number variation and mosaicism in abortion tissue

Abstract

The invention discloses a method for detecting abortion tissue DNA copy number variation and a chimera. The method comprises the steps of data quality control, data correction, copy number variation determination, result display and reference range determination. Copy number variation determination comprises the steps that (1) a copy number variation value of corrected data is determined according to a Circular Binary Segmentation algorithm; (2) a copy number variation value is determined according to a Hidden Markov Model algorithm; and (3) statistics is further performed on significance of copy number variation in an interval according to a Z-score. According to reference range determination, the reference range of an R value is [-0.2,0.2], the reference range of a Z value is [-3,3], and the situation that copy number repetition or deletion exists in a chromosome region is indicated for an interval where the R value is greater than 0.2 or smaller than -0.2 and an interval where the Z value is greater than or smaller than 3. The method can be used for analyzing abortion causes and further elaborating the important role of genetic factors in abortion generation specifically.

Description

technical field [0001] The invention relates to the field of gene information analysis of isolated tissues, in particular to a method for detecting DNA copy number variation and chimera of aborted tissues. Background technique [0002] Epidemiological evidence shows that genetic factors play an important role in the occurrence of miscarriage. Chromosomal abnormalities such as trisomies, monosomy, and polyploidy are common causes of miscarriage detected by traditional methods, accounting for 50 to 70% of miscarriages before 10 weeks of gestation. Due to the limited resolution of traditional methods, -30-40% of aborted embryos have normal detection results, namely diploid, and no more findings are available to explain the cause of miscarriage. [0003] Chromosomal mosaicism occurs at different rates in different samples. About 0.20% to 0.25% in amniotic fluid samples, about 0.8% to 0.2% in villi tissue samples. Because the chromosome gene chip is used to detect chimerism, o...

AI Technical Summary

Problems solved by technology

Through low-depth sequencing, it is possible to accurately detect the copy number changes of DNA in abortion tissues, which can overcome the shortcomings of traditional detection methods such as time-consuming, need for cell culture, and low resolution

At present, the diagnostic products on the market based on high-throughput gene sequencing methods for detecting aborted tissue are all based on the illumina sequencing platform, and there is no matching bioinformatics algorithm developed for the ion torrent platform

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