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PANX1 gene for detecting female primary infertility and kit for detecting mutation in gene

A kit, gene technology

Pending Publication Date: 2019-03-22
FUDAN UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

These patients have undergone repeated insemination-embryo transfer (test-tube baby), all of which were unable to complete successful in vitro fertilization due to the death of the obtained eggs, indicating that there are different mutations in the PANX1 gene that cause the disease
[0004] After searching the prior art literature, it was found that although there are more than 500 articles related to the research on the function of the PANX1 gene, there has been no report on the relationship between the PANX1 gene mutation and human diseases
No reports related to female infertility were found

Method used

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  • PANX1 gene for detecting female primary infertility and kit for detecting mutation in gene

Examples

Experimental program
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Effect test

Embodiment 1

[0045] Example 1: Collection of samples and extraction of peripheral blood DNA

[0046]Patients with primary infertility caused by oocyte death were from the Reproductive Center of Ninth People's Hospital Affiliated to Shanghai Jiaotong University, China. The diagnostic criteria were proposed by inventor Wang Lei et al. The semen test of the male partner is normal, and the female patient’s female reproductive organs, ovarian function, and sex hormones are all normal. More than 5 eggs are obtained each time in more than 2 stimulation cycles. Before fertilization, it shows blackness and atrophy or can be fertilized normally, but it appears blackness and atrophy about 10-15 hours after fertilization. Subsequent embryonic divisions are thus completed. Under the premise of informed consent, participants participated in the research of this subject, collected blood, and signed an informed consent form. All enrolled patients were excluded from other reproductive endocrine diseases...

Embodiment 2

[0047] Example 2: Detection of mutations in the PANX1 gene

[0048] The present invention uses PCR combined with sequencing to search for PANX1 gene mutations. The principle is to design primers (primer sequences can be specified) and amplify the five exons of the PANX1 gene to search for mutations in the PANX1 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 then sequenced on the ABI3730 sequencer. Analysis of results Performed by HLA Fusion software (One lambda, CA, USA, HLA Fusion 3.0).

Embodiment 3

[0049] Example 3: PANX1 gene mutation and primary infertility caused by oocyte death

[0050] Results: We collected 4 patients with primary infertility caused by oocyte death caused by PANX1 gene mutation. The corresponding mutation site information is shown in Table 1. For the distribution of mutation sites in the structure, see figure 1 shown.

[0051] Using the primers and methods mentioned above, we detected 4 mutation sites in 4 patients: p.Q392*, p.C347S, p.K346E and p. 21_23delTEP. Carbenoxolone (300uM) was used to treat the patient's eggs, and it was found that the eggs no longer died.

[0052] In summary, the present invention has the following important practical significance:

[0053] (1) The PANX1 gene proposed by the present invention can be used as a marker gene for predicting female infertility caused by egg death;

[0054] (2) The PANX1 gene provided by the present invention can be used to evaluate or prepare a screening kit for female infertility caused b...

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Abstract

The invention belongs to the technical field of gene detection, in particular to a PANX1 gene for detecting female primary infertility and a kit for detecting mutation in the gene. The invention includes pointing out for the first time that the mutation in the human PANX1 gene is the cause of female infertility caused by ovum death, thereby providing the PANX1 gene capable of being used as a marker gene for judging female infertility caused by ovum death. The invention further provides a screening kit for detecting the mutation in the PANX1 gene to evaluate female infertility caused by ovum death. Whether the mutation occurs or not in the PANX1 gene provided by the invention can be used for guiding whether a corresponding clinical patient is suitable for in-vitro fertilization surgery or not.

Description

technical field [0001] The invention belongs to the technical field of gene detection, and in particular relates to a PANX1 gene used for detecting female primary infertility and a kit for detecting the mutation of the gene. 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] We recently discovered a previously unreported cause of female infertility: egg death. These patients h...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156C12Q2600/112
Inventor 王磊桑庆张治华穆健李巧丽
Owner FUDAN UNIV
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