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The pathogenic gene nfatc1 and its detection method for men with moderate anemia

An anemic, male technology, applied in the direction of biochemical equipment and methods, microbiological determination/inspection, etc.

Active Publication Date: 2020-12-01
黄志玲
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, due to the complexity of diseases, it is necessary to combine the next-generation sequencing results with basic signs and clinical information to better analyze the pathogenic gene characteristics of specific disease subgroups

Method used

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  • The pathogenic gene nfatc1 and its detection method for men with moderate anemia
  • The pathogenic gene nfatc1 and its detection method for men with moderate anemia

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0015] Select 25 male patients with spermatogenesis disorder confirmed by clinical examination to undergo genetic testing and analysis under the condition that they signed the informed consent. It should be understood that these examples are only used to illustrate the present invention and are not intended to limit the scope of the present invention. For the experimental methods that do not indicate specific conditions in the following examples, usually follow the conventional conditions such as the conditions described in "Molecular Cloning Experiment Guide" (J. Sambrook et al., third edition, Science Press), or according to the manufacturing conditions recommended by the manufacturer. In addition, the embodiment relates to the diagnosis of patients with spermatogenesis disorders such as oligospermia and asthenospermia, and the judgment of moderate anemia according to the existing conventional clinical and sign standards.

[0016] (1) Gene mutation determination in male pat...

Embodiment 2

[0032] In addition, 10 moderately anemic males with spermatogenic disorders, 20 non-anemic males with spermatogenic disorders, and 10 moderately anemic males without spermatogenic disorders were collected for genome extraction. For each sample, the NFATC1 pathogenic gene fragment was amplified with reference to the system and method in Example 1, and the amplified product was subjected to sequencing analysis. As a result, only 10 moderately anemic men with impaired spermatogenesis were found to have the c.95750G>C mutation of the NFATC1 gene. The relevant data are shown in Table 3.

[0033] Table 3 Sequencing results of NFATC1 gene fragments in 10 moderately anemic male patients with spermatogenic disorders

[0034] sample number mutation sequence A1 c.95750G>C SEQ ID NO:1 A2 c.95750G>C SEQ ID NO:1 A3 c.95750G>C SEQ ID NO:1 A4 c.95750G>C SEQ ID NO:1 A5 c.95750G>C SEQ ID NO:1 A6 c.95750G>C SEQ ID NO:1 A7 c.9575...

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Abstract

The invention provides a mutation form of a pathogenic gene NFATC1 of dyszoospermia of males with moderate anemia. The sequence of the pathogenic gene NFATC1 is as shown in SEQ ID NO:1. The inventionalso provides a detection method for the pathogenic gene NFATC1 of the dyszoospermia of males with the moderate anemia. The detection method comprises amplification based on segments of the pathogenicgene NFATC1 and Sanger sequencing and mainly relates to amplified primer pairs shown by SEQ ID NO:2-SEQ ID NO:3. The form of the pathogenic gene NFATC1 provided by the invention can provide basis andlay foundation for analysis on the pathogenic mechanism of the dyszoospermia of males with the moderate anemia, pathogenic-gene detection and targeted prevention and treatment and the like; and the constructed method for detecting the pathogenic gene NFATC1 has the characteristics of being accurate, reliable, simple and fast.

Description

technical field [0001] The invention relates to a gene and a detection method thereof, in particular to the NFATC1 gene NFATC1 and a detection method thereof for men with moderate anemia. Background technique [0002] About 5% of men of reproductive age have infertility problems, 40% of which are abnormal sperm quality, mainly manifested as oligozoospermia, azoospermia, and poor sperm motility. Male fertility depends on functional sperm. The process of sperm production and development in the testis is controlled by many related genes. Abnormalities in these genes will affect the formation of sperm and cause male infertility. At present, mutations, insertions / deletions and genetic polymorphisms of spermatogenesis-related genes are considered to be important genetic causes of male spermatogenesis disorders, but most of the spermatogenesis-related genes have not yet been resolved. Therefore, it is necessary to explore the genetic characteristics of male infertility, which is t...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883
Inventor 黄志玲
Owner 黄志玲