FBXO43 gene for detecting female primary infertility and kit for detecting gene mutation

A technology of primary infertility and a kit, which is applied in the direction of microbial determination/testing, DNA/RNA fragments, recombinant DNA technology, etc., and can solve problems such as unseen and undiscovered female infertility

Pending Publication Date: 2021-07-20
FUDAN UNIV +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, there have been no reports on the relationship between FBXO43 gene mutations and human diseases, nor have any reports on the relationship between FBXO43 gene mutations and female infertility

Method used

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  • FBXO43 gene for detecting female primary infertility and kit for detecting gene mutation
  • FBXO43 gene for detecting female primary infertility and kit for detecting gene mutation

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0046] Example 1: Collection of samples and extraction of peripheral blood DNA

[0047] Patients with primary infertility came from Shanghai Jiai Genetics and Infertility Diagnosis and Treatment Center of Red House Hospital Affiliated to Fudan University in Shanghai, China, and the Reproductive Center of Maternal and Child Health Hospital of Shaanxi Province, 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 vitro fertilization. FertilSteril. 1990 Aug; 54(2) :292-6) proposed. The semen test of the male partner was normal, while 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, and most of the eggs were immature, or the mature eggs were poorly fertilized or repeated embryo cessation. Under the premis...

Embodiment 2

[0048] Embodiment 2: detect the mutation of FBXO43 gene

[0049] The present invention uses PCR combined with sequencing to search for FBXO43 gene mutation. The principle is to design primers (primer sequences can be specified) and amplify the 5 exon coding regions of the FBXO43 gene to search for mutations in the FBXO43 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

[0050] Example 3: FBXO43 gene mutation and primary infertility caused by repeated embryo suspension after egg fertilization

[0051] Results: We collected 3 cases of primary infertility patients with FBXO43 gene mutation caused by repeated embryo stop after egg fertilization. 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.

[0052] Table 1 FBXO43 gene mutation information of patients

[0053]

[0054] In summary, the present invention has the following important practical significance:

[0055] (1) The FBXO43 gene proposed by the present invention can be used as a marker gene for predicting female infertility caused by repeated embryo cessation after egg fertilization.

[0056] (2) The FBXO43 gene provided by the present invention can be used to evaluate or prepare a screening kit for female infertility caused by repeated embryo cessation after egg fertilizati...

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PUM

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Abstract

The invention belongs to the technical field of gene detection, and particularly relates to an FBXO43 gene for detecting female primary infertility and a kit for detecting gene mutation. The FBXO43 gene is used as a marker for judging the primary infertility of women caused by repeated embryo pause after ovum fertilization, and specifically, whether the primary infertility of women caused by repeated embryo pause after ovum fertilization is detected by detecting whether the FBXO43 gene is mutated or not, so that whether the primary infertility of women is caused by repeated embryo pause after ovum fertilization or not is judged. The invention also comprises a primer for detecting whether the FBXO43 gene is mutated or not, and a detection kit consisting of the primer, DNA polymerase, dNTP and a buffer solution. According to the invention, the mutation of the FBXO43 gene can be detected to guide the clinical patient with the mutation of the gene to judge whether the test tube baby operation is suitable or not.

Description

technical field [0001] The invention belongs to the technical field of gene detection, and in particular relates to a FBXO43 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] There are many causes of female infertility, and there are some clinical reports involving the descript...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 王磊桑庆
Owner FUDAN UNIV
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