Microhaplotype genetic marker combination and method for noninvasive prenatal paternity relationship judgment

A paternity relationship and genetic marker technology, applied in the field of microhaplotype genetic marker combination for non-invasive prenatal paternity determination, can solve the problems of insufficient detection system efficiency, linkage disequilibrium, low SNP polymorphism, etc. Great application prospect, easy operation effect

Active Publication Date: 2020-08-11
SUN YAT SEN UNIV
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Problems solved by technology

However, as a dimorphic genetic marker, SNP polymorphism is not high, and often requires up to a thousand SNPs to have a good identification performance. Low concentrations of cffDNA in early pregnancy are often not detected due to insufficient detection system performance. Obtain c

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  • Microhaplotype genetic marker combination and method for noninvasive prenatal paternity relationship judgment
  • Microhaplotype genetic marker combination and method for noninvasive prenatal paternity relationship judgment
  • Microhaplotype genetic marker combination and method for noninvasive prenatal paternity relationship judgment

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Embodiment 1

[0042] The establishment of a method for non-invasive prenatal parentage determination using micro-haplotype sequencing includes the following steps:

[0043]1. Screening eligible micro-haplotype sites: the present invention attempts to screen out micro-haplotypes that can be used for non-invasive prenatal parental relationship determination in the human genome. The screening criteria are as follows:

[0044] (1) Located on an autosome;

[0045] (2) Conform to Hardy-Weinberg equilibrium law (p<0.001);

[0046] (3) There are ≥ 3 SNPs that make up the micro-haplotype, and the minimum allele frequency of the SNP within the site is > 0.05;

[0047] (4) The number of haplotypes is not less than 4, and at least 3 haplotype frequencies are >0.1;

[0048] (5) The length of the target fragment is less than 150bp, which is beneficial to the detection of fragmented cell-free fetal DNA; finally, through creative work, 60 micro-haplotype sites shown in Table 1 were obtained through scree...

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Abstract

The invention discloses a microhaplotype genetic marker combination and method for noninvasive prenatal paternity relationship judgment. The microhaplotype genetic marker combination for noninvasive prenatal paternity relationship judgment is provided firstly; and a calculation model of a fetal paternity index (PI) is built based on a Bayesian principle according to a sequencing result in combination with a high-throughput sequencing technology by taking microhaplotypes uniformly distributed on autosomes as genetic markers so as to judge a prenatal paternity relationship of gemellary pregnancy. According to the method, only 10ml of peripheral blood of a mother needs to be provided, and free DNA extracted from peripheral plasma of the mother already contains free DNA of a fetus, so that themother and the fetus only need one sample. Because only the venous blood of the pregnant woman needs to be extracted, the operation is simple and convenient, and the pregnant woman and the fetus cannot be wounded; and identification can be carried out after 7 weeks of pregnancy, and a detection result is consistent with that of a conventional STR typing method, so that the application prospect isrelatively great.

Description

technical field [0001] The invention relates to the technical field of forensic medicine, and more specifically, relates to a micro-haplotype genetic marker combination and method for non-invasive prenatal parental relationship determination. Background technique [0002] At present, prenatal fetal genetic diagnosis is mainly based on invasive sampling, including chorionic villus sampling (CVS) and amniocentesis. Although these diagnostic methods have high accuracy, their operations are invasive and can lead to uterine bleeding. Various pregnancy adverse reactions such as internal infection, miscarriage and stillbirth, and the sampling time should not be earlier than 10 weeks. The discovery of cff DNA (fetal cell-free DNA) in pregnant women's plasma in 1997 made non-invasive prenatal testing possible, which is of great significance for avoiding the risks of invasive sampling and effectively protecting maternal and fetal health. [0003] In the study of forensic genetics, re...

Claims

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Application Information

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IPC IPC(8): C12Q1/6888C12Q1/6869C12N15/11G16B20/20
CPCC12Q1/6888C12Q1/6869G16B20/20C12Q2600/156C12Q2600/172C12Q2535/122C12Q2537/165
Inventor 欧雪玲屈宁林少宾白肇宸高军王焕
Owner SUN YAT SEN UNIV
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