Marked CDC20 gene for judging female primary infertility and detection kit thereof

A kit and genetic technology, applied in genetic engineering, plant genetic improvement, microbial measurement/inspection, etc., can solve the problems of female infertility and female infertility not found

Pending Publication Date: 2021-06-01
FUDAN UNIV +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

These studies reported that this gene plays an important role in mouse egg meiosis, and its knockout resulted in infertility in female mice
However, there have been no reports on the relationship between CDC20 gene mutations and human diseases so far
No reports related to female infertility were found

Method used

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  • Marked CDC20 gene for judging female primary infertility and detection kit thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0057] Example 1: Collection of samples and extraction of peripheral blood DNA

[0058] Patients with primary infertility caused by immature eggs, fertilization and abnormal embryos came from Shanghai Jiai Genetics and Infertility Clinic Center of an Affiliated Hospital of Fudan University in Shanghai, China, and the Reproductive Center of an Affiliated Hospital of Shanghai Jiaotong University in China. The diagnostic criteria were determined by RudakE et al. (Rudak E., DorJ., KimchiM., Goldman B., Levran D and Mashiach S, Anomalies of human oocytes from infertile women undergoing treatment by in vitrofertilization. FertilSteril. 1990 Aug; 54(2):292 -6) Present. The semen test of the male partner was normal, and the female patient’s female reproductive organs, ovarian function, and sex hormones were all normal. More than 5 eggs were obtained each time in more than 2 stimulation cycles. Most of the eggs were in the GV stage and could not undergo normal meiosis and maturation. ...

Embodiment 2

[0059] Example 2: Detection of mutations in the CDC20 gene

[0060] The present invention uses PCR combined with sequencing to search for CDC20 gene mutations. The principle is to design primers (the sequence of the primers can be specified) and amplify the 10 exons of the CDC20 gene to search for mutations in the CDC20 gene. (That is, the DNA sample is mixed with the reaction working solution (DNA polymerase, dNTP, water and buffer) and then amplified according to the PCR program. The obtained product is purified and further sequenced, and sequenced on the ABI3730 sequencer. Analysis of results Performed by HLA Fusion software (One lambda, CA, USA, HLA Fusion 3.0).

Embodiment 3

[0061] Example 3: CDC20 gene mutation and primary infertility caused by immature eggs, fertilization and embryo abnormalities

[0062] Results: We collected 5 patients with primary infertility caused by CDC20 gene mutations due to immature eggs, fertilization and abnormal embryos. The corresponding mutation site information is shown in the table below (Table 1). For the distribution of mutation sites in the structure, see figure 1 shown.

[0063] Table 1 Information on the CDC20 gene mutation of the patient

[0064] .

[0065] In summary, the present invention has the following important practical significance:

[0066] (1) The CDC20 gene proposed by the present invention can be used as a marker gene to predict female infertility caused by immature eggs, fertilization and abnormal embryos;

[0067] (2) The CDC20 gene provided by the present invention can be used to evaluate or prepare a screening kit for female infertility caused by immature eggs, fertilization and abno...

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PUM

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Abstract

The invention belongs to the technical field of gene detection, and particularly relates to a marker for judging female primary infertility and a detection kit thereof. The marker involved in the invention is a human CDC20 gene, and the mutation of the human CDC20 gene is a reason for female infertility caused by immature ova, fertilization and abnormal embryos. The invention also provides primers for detecting whether the CDC20 gene is mutated or not, wherein the primers comprise SEQ ID NO.2-SEQ ID NO.17; and the invention further discloses a screening kit for detecting mutation of the CDC20 gene. The method can be used for guiding whether the corresponding clinical patient is suitable for a test-tube baby operation or not.

Description

technical field [0001] The invention belongs to the technical field of gene detection, and in particular relates to a marker for detecting female primary infertility and a detection kit thereof. Background technique [0002] Normal pregnancy and reproduction is an important part of maintaining and continuing the human population. For female infertility, ZP-1, Stag3, FSHR and other genes have been found to be closely related to female infertility (Huang HL et al, Mutant ZP1 infamilial infertility. N Engl J Med. 2014 370(13):1220- 6; de Roux N et al, Afamily with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor. N Engl J Med. 1997 337(22):1597-602; Caburet S etal, Mutant cohesion in premature ovarian failure. N Engl J Med. 2014 370(10):943-9). However, none of them have been used clinically. [0003] There are many causes of female infertility, and there are some clinical reports involving the description of female infertility chara...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12Q1/6858C12N15/12C12N15/11
CPCC12Q1/6883C12Q1/6858C12Q2600/156C12Q2531/113C12Q2535/122C12Q2535/101
Inventor 王磊桑庆赵琳
Owner FUDAN UNIV
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