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Application of TEX11 gene pathogenic mutation in preparation of diagnostic kit for detecting non-obstructive azoospermia

A diagnostic kit and technology for azoospermia, applied in biochemical equipment and methods, resistance to vector-borne diseases, measurement/inspection of microorganisms, etc., to achieve strong practicability, good application prospects, and the effect of reducing the economic burden of patients

Active Publication Date: 2021-08-27
SHANGHAI FIRST PEOPLES HOSPITAL
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  • Abstract
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Problems solved by technology

There is no report about the application of the TEX11 gene pathogenic mutation of the present invention in the preparation of a diagnostic kit for detecting non-obstructive azoospermia

Method used

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  • Application of TEX11 gene pathogenic mutation in preparation of diagnostic kit for detecting non-obstructive azoospermia
  • Application of TEX11 gene pathogenic mutation in preparation of diagnostic kit for detecting non-obstructive azoospermia
  • Application of TEX11 gene pathogenic mutation in preparation of diagnostic kit for detecting non-obstructive azoospermia

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Experimental program
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Embodiment

[0025] 1 method

[0026] 1.1 DNA extraction from peripheral blood (TIANamp Genomic DNAKit, DP: 304)

[0027]1) In accordance with the relevant national policies and regulations, and on the basis of the consent of the sampling subject, draw 2-5ml of peripheral venous blood from the first family member, put it into an EDTA anticoagulant tube, and store it at -80°C for later use;

[0028] 2) Take 200ul frozen blood, add 20ul Proteinase K solution, and mix well;

[0029] 3) Add 200ul buffer solution GB, mix thoroughly by inversion, place at 70°C for 10min, the solution should become clear, and briefly centrifuge to remove the water droplets on the inner wall of the tube cap;

[0030] 4) Add 200 μL of absolute ethanol, shake and mix well for 15 seconds, at this time flocculent precipitation may appear, briefly centrifuge to remove water droplets on the inner wall of the tube cap;

[0031] 5) Add the solution and flocculent precipitate obtained in the previous step into an adsorpt...

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Abstract

The invention relates to the technical field of biology, in particular to application of TEX11 gene pathogenic mutation in preparation of a diagnostic kit for detecting non-obstructive azoospermia. According to the method, peripheral blood DNA (deoxyribonucleic acid) is firstly extracted, then a target gene is subjected to PCR (polymerase chain reaction) amplification, and finally, the pathogenic mutation of the TEX11 gene is finally verified in four families: family 1: NM_001003811:c.G2613T:p.W871C, family 2: NM_001003811:c.1426-1C>T; family 3: NM_001003811:c.1796+2T>G; and family 4: NM_001003811:c.857delA:p.K286R fs*5. The method has the advantages that an effective way is provided for non-obstructive azoospermia gene diagnosis, prenatal gene screening and genetic counseling.

Description

technical field [0001] The invention relates to the field of biotechnology, in particular to the application of TEX11 gene pathogenic mutation in the preparation of a diagnostic kit for detecting non-obstructive azoospermia. Background technique [0002] Fertility is a complex process that cannot be completed by a single individual, but depends on both men and women, and can only be successfully completed when various conditions are suitable for both parties. According to WHO statistics, about one out of every seven couples has various degrees of fertility obstacles, and nearly half of them are related to the male factor, which is called male infertility. Male infertility has caused heavy mental and economic burdens to individuals and families, and has become one of the unstable factors of families and society. Therefore, male infertility has gradually become a global public social problem, and it is one of the important contents of reproductive health services in many coun...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156Y02A50/30
Inventor 纪智勇姚晨成黄川杨超赵亮宇韩厦罗嘉强欧宁静张雨翔赵晶鹏李铮
Owner SHANGHAI FIRST PEOPLES HOSPITAL
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