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Method for detecting descendant gene type before delivery and application

A prenatal detection and genotyping technology, applied in the biological field, can solve the economic and mental burden of newborn deaf children, the inability to realize prenatal prediction, the breathing of aborted newborns and other problems, and achieve low cost, short cycle and non-invasive method Effect

Inactive Publication Date: 2018-09-14
北京爱普益医学检验中心有限公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0004] Although the newborn deafness gene detection technology has matured and been introduced to the market, the detection technology is suitable for newborn babies, which is a remedy for the results, and will still bring economic and mental burden to the society and families of newborn deaf children
Relying on amniocentesis technology can achieve accurate genetic testing during fetal life, but amniocentesis may lead to infection, miscarriage or neonatal respiratory distress, and there are certain risks
[0005] CN 107190064A discloses the SNaPshot kit for detecting the polymorphism of the deafness gene at 22 sites, which is helpful for early detection of children carrying the mutation of the deafness gene. However, the kit is only applicable to newborn babies and is a remedy for the result However, these measures will still bring economic and mental burdens to the society and families of newborn deaf children, and cannot achieve prenatal prediction

Method used

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  • Method for detecting descendant gene type before delivery and application
  • Method for detecting descendant gene type before delivery and application
  • Method for detecting descendant gene type before delivery and application

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0054] The determination of embodiment 1 gene locus

[0055] 15 hotspot deafness gene loci and 31 auxiliary gene loci were selected for detection.

[0056] 遗传性耳聋基因位点:rs121908362、rs750188782、rs111033220、rs111033204、rs80338939、rs111033313、rs201562855、rs111033305、rs80338943、rs200455203、rs111033318、rs192366176、rs74315319、rs267606619、rs267606617;

[0057] 辅助基因位点:rs146044344、rs17878444、rs28369942、rs2307959、rs2067235、rs2308292、rs1610937、rs1305056、rs2307652、rs1057516953、rs111033380、rs121908363、rs1611048、rs1611001、rs2308072、rs3081400、rs8190570、rs201771066、rs150042219、rs773528125、rs17238892、rs2308163、rs2307433 , rs1610905, rs2307581, rs1305047, rs16438, rs8178524, rs16388, rs6481, rs16363.

Embodiment 2

[0058] Example 2 Extraction of cfDNA from peripheral blood of pregnant women

[0059] With the informed consent of the subjects, 10mL of peripheral blood was collected from pregnant women with a gestational age of 12-24 weeks, and the plasma was separated using ABI’s MagMAX TM The Cell Free DNA Isolation Kit kit was used to extract free DNA (cfDNA) and freeze it at -20°C for later use.

Embodiment 3

[0060] Example 3 cfDNA-specific library construction

[0061] (1) Construction of library-specific primer sequences shown in Table 2 as SEQ ID NO.1-46, synthesized by Hangzhou Lianchuan Biotechnology;

[0062] (2) One-step PCR is used to construct a DNA library, the reaction system is as shown in Table 3, and the reaction procedure is as shown in Table 4;

[0063] table 3

[0064]

[0065]

[0066] Table 4

[0067]

[0068]

[0069] (3) Purify the constructed DNA library with purification magnetic beads.

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Abstract

The invention provides a method for detecting a descendant gene type antepartum and application. The method comprises the following steps: (1) selecting no less than 30 gene sites and calculating theminimum allele frequency of each gene site; (2) clustering sets of the minimum allele frequency in step (1) and dividing into four types; determining a clustering result of each gene site; (3) obtaining a gene type combination of the gene sites of parental generations and descendants according to the clustering result of the gene sites in step (2); (4) obtaining the gene types of the gene sites ofthe descendants according to the gene types of the gene sites of the parental generations. According to the method provided by the invention, a mathematics clustering thought is applied to the fieldof biology and the clustering result of the minimum allele frequency is determined so that the gene type of a fetus in gestation period is detected.

Description

technical field [0001] The invention belongs to the field of biotechnology, and relates to a method and application for prenatal detection of offspring genotype. Background technique [0002] Deafness is an auditory dysfunction caused by lesions in the auditory system and the auditory nerve and central nervous system at all levels in the auditory system and auditory conduction pathway, which can cause hearing loss to varying degrees. Congenital deafness is one of the most common birth defects and the most common human sensory system disease, with an incidence rate of 0.1-0.3%. Among them, 60% of deafness is caused by genetic factors, and another 40% is related to environmental factors. Hereditary deafness is divided into comprehensive deafness and non-synthetic deafness. Non-synthetic deafness with deafness as the only symptom accounts for 70% of all hereditary deafness, and has a high degree of genetic heterogeneity, and comprehensive deafness accounts for 30%. [0003] C...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883G06F19/24
CPCG16B40/00C12Q1/6883C12Q2600/156
Inventor 李国栋冯冬申童王玲
Owner 北京爱普益医学检验中心有限公司