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Marked TRIP13 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 problems such as undiscovered female infertility

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 the process of meiosis in mouse eggs, knockouts lead to infertility in female mice, and TRIP13 gene truncating mutations lead to the occurrence of Wilms tumors, but did not find that it is associated with female infertility report

Method used

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  • Marked TRIP13 gene for judging female primary infertility and detection kit thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0068] Example 1: Collection of samples and extraction of peripheral blood DNA

[0069] The patients with primary infertility caused by immature eggs came from the Shanghai Jiai Genetics and Infertility Diagnosis and Treatment Center of the Red House Hospital Affiliated to Fudan University in Shanghai, China, and the Reproductive Center of the Ninth People's Hospital Affiliated to Shanghai Jiaotong University, China. The diagnostic criteria were determined by Rudak E 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) proposed. The man’s semen examination was normal, while the woman’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 MI stage and could not undergo normal meiosis and maturation....

Embodiment 2

[0070] Example 2: Detection of mutations in the TRIP13 gene

[0071] The present invention uses PCR combined with sequencing to search for TRIP13 gene mutations. The principle is to design primers (primer sequences can be given in detail) and amplify the 13 exon coding regions of the TRIP13 gene, and then search for TRIP13 gene mutations. (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

[0072] Example 3: TRIP13 gene mutation and primary infertility caused by immature eggs

[0073] Results: We collected 4 patients with primary infertility caused by immature eggs caused by TRIP13 gene mutation. 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.

[0074] Table 1 Patient TRIP13 gene mutation information

[0075] .

[0076] In summary, the present invention has the following important practical significance:

[0077] (1) The TRIP13 gene proposed by the present invention can be used as a marker gene for predicting female infertility caused by immature eggs;

[0078] (2) The TRIP13 gene provided by the present invention can be used to evaluate or prepare a screening kit for female infertility caused by immature eggs;

[0079] (3) Using the present invention, it is possible to study and prepare drugs for repairing gene mutation target sites, that is, d...

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Abstract

The invention belongs to the technical field of gene detection, and particularly relates to a kit for detecting TRIP13 gene mutation of female primary infertility. The invention relates to a human TRIP13 gene, and the mutation of the human TRIP13 gene is a reason for female infertility caused by immature ova. By detecting the mutation of the TRIP13 gene, the TRIP13 gene can be used as a marker gene for judging female infertility caused by immature ova. The TRIP13 gene mutation provided by the invention can be used for evaluating or preparing a screening kit for female infertility caused by immature ova. Whether the TRIP13 gene is mutated or not can be used for guiding whether corresponding clinical patients are suitable for test tube baby operations or not.

Description

technical field [0001] The invention belongs to the technical field of gene detection, and in particular relates to a marker for judging 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 charact...

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 王磊桑庆张治华
Owner FUDAN UNIV
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