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MEI1 gene for detecting female primary infertility and kit for detecting gene mutation

A kit, gene technology, applied in genetic engineering, plant genetic improvement, application, etc.

Pending Publication Date: 2021-08-31
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 MEI1 gene mutations and human preimplantation embryo developmental abnormalities

Method used

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  • MEI1 gene for detecting female primary infertility and kit for detecting gene mutation
  • MEI1 gene for detecting female primary infertility and kit for detecting gene mutation

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0124] Example 1: Collection of samples and extraction of peripheral blood DNA

[0125] 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 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, and most of the eggs are not mature, or the mature eggs are poorly fertilized or the embryos stop fertilizing repeatedly or Migra...

Embodiment 2

[0126] Example 2: Detection of mutations in the MEI1 gene

[0127] The present invention uses PCR combined with sequencing to search for MEI1 gene mutation. The principle is to design primers (primer sequences can be specified) and amplify the 31 exon coding regions of the MEI1 gene to search for mutations in the MEI1 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 HLAFusion software (One lambda, CA, USA, HLA Fusion 3.0).

Embodiment 3

[0128] Example 3: MEI1 gene mutation and primary infertility caused by repeated embryo stoppage or implantation failure after egg fertilization

[0129] Results: We collected 7 patients with primary infertility caused by MEI1 gene mutation due to repeated embryo stoppage or transplantation failure 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.

[0130] Table 1 Information on MEI1 gene mutation in patients

[0131]

[0132] In summary, the present invention has the following important practical significance:

[0133] (1) The MEI1 gene proposed by the present invention can be used as a marker gene for predicting female infertility caused by repeated embryo stoppage or transplantation failure after egg fertilization.

[0134] (2) The MEI1 gene provided by the present invention can be used to evaluate or prepare a screening kit for female...

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Abstract

The invention belongs to the technical field of gene detection, and particularly relates to an MEI1 gene for detecting female primary infertility and a kit for detecting gene mutation. The MEI1 gene serves as a marker for judging infertility caused by repeated embryo pause or transplantation failure after female ovum fertilization, and whether female primary infertility is caused by repeated embryo pause or transplantation failure after ovum fertilization is specifically judged by detecting whether the MEI1 gene is mutated or not. The invention also comprises a primer for detecting whether the MEI1 gene is mutated or not, and a detection kit consisting of the primer, DNA polymerase, dNTP and a buffer solution. Whether a patient with gene mutation is suitable for test-tube infant operation or not is guided by detecting whether the MEI1 gene is mutated or not.

Description

technical field [0001] The invention belongs to the technical field of gene detection, and in particular relates to a kit for detecting the MEI1 gene of female primary infertility and 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 description of female in...

Claims

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Application Information

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