PATL2 gene for detecting female primary infertility and kit for detecting mutation of PATL2 gene

A technology for female infertility and primary infertility, applied in the direction of recombinant DNA technology, microbial measurement/testing, DNA/RNA fragments, etc., can solve the problem of undiscovered female infertility

Active Publication Date: 2017-12-15
FUDAN UNIV
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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 PATL2 gene mutations and human diseases
No reports related to female infertility were found

Method used

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  • PATL2 gene for detecting female primary infertility and kit for detecting mutation of PATL2 gene
  • PATL2 gene for detecting female primary infertility and kit for detecting mutation of PATL2 gene

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0073] Example 1: Collection of samples and extraction of peripheral blood DNA

[0074] 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 GV stage and could not undergo normal meiosis and maturation....

Embodiment 2

[0075] Example 2: Detection of mutations in the PATL2 gene

[0076] The present invention uses PCR combined with sequencing to search for PATL2 gene mutations. The principle is to design primers (the sequence of the primers can be specified) and amplify the 15 exons of the PATL2 gene to search for mutations in the PATL2 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

[0077] Example 3: PATL2 gene mutation and primary infertility caused by immature eggs

[0078] Results: We collected 5 patients with primary infertility caused by immature eggs caused by PATL2 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.

[0079] Table 1 Patient PATL2 gene mutation information

[0080]

[0081] In summary, the present invention has the following important practical significance:

[0082] (1) The PATL2 gene proposed by the present invention can be used as a marker gene for predicting female infertility caused by immature eggs;

[0083] (2) The PATL2 gene provided by the present invention can be used to evaluate or prepare a screening kit for female infertility caused by immature eggs;

[0084] (3) Using the present invention, it is possible to study and prepare drugs for repairing gene mutation target sites, that is, drugs fo...

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PUM

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Abstract

The invention belongs to the technical field of gene detection, and particularly relates to a kit for detecting mutation of a PATL2 gene for detecting female primary infertility. The mutation of the human PATL2 gene involved in the invention is a reason of female infertility caused by immature ova. Through detection of the mutation of the PATL2 gene, the PATL2 gene can be used as a marker gene for judging the female infertility caused by the immature ova. Through detection of the mutation of the PATL2 gene provided by the invention, the PATL2 gene can be used for evaluating or preparing the kit for screening the female infertility caused by the immature ova. Through judgment of the mutation of the PATL2 gene provided by the invention or not, the PATL2 gene can be used for guiding whether a corresponding clinical patient is suitable for in-vitro fertilization.

Description

technical field [0001] The invention belongs to the technical field of gene detection, in particular to a kit for detecting the PATL2 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 some clinical reports relate to the description of female infertility characteriz...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 王磊陈标榜桑庆胥尧穆健
Owner FUDAN UNIV
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