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Marker BTG4 gene for judging female primary infertility and detection kit thereof

A primary infertility, kit technology, applied in the direction of genetic engineering, plant genetic improvement, microbial determination/inspection, etc., can solve problems such as unseen and undiscovered female infertility

Pending Publication Date: 2020-08-18
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 BTG4 gene mutations and human diseases, nor have there been reports on its association with female infertility

Method used

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  • Marker BTG4 gene for judging female primary infertility and detection kit thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0044] Example 1: Collection of samples and extraction of peripheral blood DNA

[0045] Patients with primary infertility caused by non-cleavage of eggs after fertilization were from Shanghai Jiai Genetics and Infertility Diagnosis and Treatment Center, Red House Hospital Affiliated to Fudan University, Shanghai, China, Ninth People's Hospital Affiliated to Shanghai Jiaotong University, China, and Maternal and Child Health Hospital of Shaanxi Province, China. center etc. The diagnostic criteria are determined by Rudak E et al. (Rudak E., DorJ., KimchiM., Goldman B., Levran Dand 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...

Embodiment 2

[0046] Example 2: Detection of mutations in the BTG4 gene

[0047] The present invention uses PCR combined with sequencing to search for BTG4 gene mutation. The principle is to design primers (primer sequences can be specified) and amplify the 5 exon coding regions of the BTG4 gene to search for mutations in the BTG4 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

[0048] Example 3: BTG4 gene mutation and primary infertility caused by ovum cleavage after fertilization

[0049] Results: We collected 3 cases of primary infertility caused by BTG4 gene mutations due to non-cleavage of eggs after 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.

[0050] Table 1 Patient BTG4 gene mutation information

[0051] .

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

[0053] (1) The BTG4 gene proposed by the present invention can be used as a marker gene for predicting female infertility caused by non-cleavage of eggs after fertilization;

[0054] (2) The BTG4 gene provided by the present invention can be used to evaluate or prepare a screening kit for female infertility caused by non-cleavage of eggs after fertilization;

[0055] (3) Using the present invention, it is poss...

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Abstract

The invention discloses a marker BTG4 gene for judging female primary infertility and a detection kit thereof. The invention belongs to the technical field of gene detection, and particularly relatesto a kit for detecting BTG4 gene mutation of female primary infertility. The mutation of the human BTG4 gene provided by the invention can cause female infertility caused by non-cleavage after ovum fertilization, so that the BTG4 gene can be used as a marker gene for judging female infertility caused by non-cleavage after ovum fertilization. The invention further relates to primers for detecting whether the BTG4 gene mutates or not, namely SEQ ID NO.2 to SEQ ID NO.11, and a screening kit for female infertility caused by no cleavage after ovum fertilization. Whether BTG4 gene mutation occurs ornot can also be used for guiding whether a clinical corresponding patient is suitable for test tube infant surgery 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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Patent Type & Authority Applications(China)
IPC IPC(8): C12N15/12C12Q1/6883C12N15/11
CPCC07K14/47C12Q1/6883C12Q2600/156C12Q2600/136
Inventor 王磊桑庆陈标榜李巧丽
Owner FUDAN UNIV
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