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A genetic risk early warning method and system for assisted reproduction and sperm supply strategy

A technology for assisted reproduction and genetic risk, applied in bioinformatics, genomics, instruments, etc., can solve the problems of inability to accurately assess the fertility risk of autosomal recessive genetic diseases in sperm donors

Active Publication Date: 2021-03-26
FUDAN UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Since most autosomal recessive genetic diseases have no family history, and basically every healthy person may be a carrier of a certain recessive genetic disease, traditional genetic counseling interviews, family history and karyotype analysis usually cannot be accurately assessed Fertility Risk of Autosomal Recessive Genetic Diseases in Sperm Donor Volunteers

Method used

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  • A genetic risk early warning method and system for assisted reproduction and sperm supply strategy
  • A genetic risk early warning method and system for assisted reproduction and sperm supply strategy
  • A genetic risk early warning method and system for assisted reproduction and sperm supply strategy

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0137] Example 1 Acquisition of Genetic Information of Sperm Donor Volunteers

[0138] Obtaining the genetic information of sperm donors usually includes the following steps:

[0139] 1) Genetic counseling interview: exclude sperm donor volunteers with a family history of genetic diseases.

[0140] 2) Sign the informed consent form: the informed consent form has been approved by the ethics committee, and the staff fully informed the content of the informed consent form and filled it out voluntarily.

[0141] 3) Obtain peripheral blood: Obtain 1-2ml of peripheral blood during routine blood tests.

[0142] 4) DNA extraction: Genomic DNA was extracted from blood samples of volunteers using the QIAamp DNA Blood Mini Kit (250) kit from QIAGEN.

[0143] 5) Gene detection: Combined application of whole exome sequencing (WES) technology and other genetic detection technologies for special regions of the genome (such as CNV-seq, Wait). Dozens of pathogenic variants with a high car...

Embodiment 2

[0145] Example 2 Acquisition of genetic information of pregnant women who need donor sperm for assisted reproduction

[0146] Obtaining the genetic information of a woman who needs donor sperm for assisted reproduction usually includes the following steps:

[0147] 1) Sign the informed consent form: the informed consent form has been approved by the ethics committee, and the staff fully informed the content of the informed consent form and filled it out voluntarily.

[0148] 2) Obtain peripheral blood: Obtain 1-2ml of peripheral blood during routine blood tests.

[0149] 3) DNA extraction: Genomic DNA was extracted from the blood samples of pregnant women using the QIAamp DNA Blood Mini Kit (250) kit from QIAGEN.

[0150] 4) Gene detection: Combined application of whole exome sequencing (WES) technology and other genetic detection technologies for special regions of the genome (such as CNV-seq, Wait). Dozens of pathogenic variants with a high carrier rate in the Chinese po...

Embodiment 3

[0152] Example 3 Pairing experiment between sperm donor volunteers and pregnant women who need donor sperm for assisted reproduction

[0153] 1. Data preparation

[0154] 1.1 According to the methods described in Examples 1 and 2, obtain the vcf files of the genetic variation information of multiple sperm donors and pregnant women.

[0155] 1.2 Selection of family or social factors: such as blood type information, pregnant women can choose a sperm donor of a certain blood type. Enter the blood type information selected by the sperm donor and the pregnant woman (optional step).

[0156] 1.3 Automatically obtain the sperm donor with the same blood type selected by the woman to be pregnant for subsequent analysis (optional step).

[0157] 2. Preliminary screening of variants

[0158] 2.1 Quality Control

[0159]Quality According to the Hard filter parameters recommended by GATK, the quality of SNP and Indel is screened separately. Mutation sites that meet the following param...

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Abstract

The invention provides a genetic risk early-warning method for auxiliary reproduction sperm supplying strategy and a system. According to the method and the system, an autosome recessive genetic disease reproduction genetic risk of a to-be-pregnant women is evaluated and predicted, and a sperm donation volunteer who has relatively high gene pairing degree and low genetic disease risk as a to-be-selected object. Quantification and automation for risk evaluation of a reproduction autosome recessive genetic disease are comprehensively realized. The method and the system have advantages of greatlyreducing manpower cost and time cost, realizing high reasonability, and greatly improving analysis accuracy.

Description

technical field [0001] The invention belongs to the field of assisted reproductive medicine, and in particular relates to a genetic risk early warning method and system for assisted reproductive and sperm supply strategies. Background technique [0002] my country is a country with a large population and a high incidence of birth defects. According to government statistics in 2012, the incidence of birth defects in my country is about 5.6%, and the number of new birth defects is about 900,000 cases every year. The prevention and treatment of birth defects has always been highly valued by the Chinese government. Health departments at all levels in my country are vigorously promoting various prevention and screening work, including pre-marital medical examinations, pilot projects for the prevention and control of thalassemia, major genetic metabolic diseases in newborns, and screening for hearing impairment. screening and prenatal ultrasound screening. Although the single inc...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): G16B50/30G16B20/40G16B20/20
CPCG16B20/20G16B20/40G16B50/30
Inventor 唐淑妍刘浏张锋
Owner FUDAN UNIV
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