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The ranbp9 mutant gene with mutation at position 126 and its application

A mutant gene, ranbp9 technology, applied in the field of human male spermatogenesis disorder gene RanBP9 and its detection, can solve the problem of restricting gene research and application

Active Publication Date: 2018-05-22
黄志清
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, the genetic variation characteristics of RanBP9 gene in human male spermatogenic disorders have not been analyzed, which limits the research and application of this gene

Method used

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  • The ranbp9 mutant gene with mutation at position 126 and its application
  • The ranbp9 mutant gene with mutation at position 126 and its application
  • The ranbp9 mutant gene with mutation at position 126 and its application

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0044] 25 male patients with spermatogenesis disorder confirmed by clinical examination were selected for the detection and analysis of RanBP9 gene under the condition that they signed the informed consent form. 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 spermatogenesis disorder mentioned in the examples mainly refers to oligospermia and weak spermatogenesis, and the diagnosis of patients with spermatogenesis disorder is based on the existing conventional clinical standards.

[0045] (1) PCR capture of RanBP...

Embodiment 2

[0064] In addition, 37 cases of clinically diagnosed human male spermatogenic disorders different from those in Example 1 and 100 clinically diagnosed healthy male blood samples without spermatogenic disorders were analyzed. The method was the same as in Example 1. As a result, RanBP9 gene was detected in 11 cases of patient samples Mutations, the relevant data are shown in Table 6.

[0065] Table 6 Detection and verification results of RanBP9 gene in 11 cases of human male spermatogenesis disorders

[0066] sample number

mutation

Sanger sequencing

family separation

sequence

s1

c.912G>T

unanimous

yes

SEQ ID NO:4

s2

c.133C>T

unanimous

yes

SEQ ID NO:2

s3

c.126C>T

unanimous

yes

SEQ ID NO:1

s4

c.912G>T

unanimous

yes

SEQ ID NO:4

s5

c.126C>T

unanimous

yes

SEQ ID NO:1

s6

c.702T>G

unanimous

yes

SEQ ID NO:3

s7

c.126C>T

...

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Abstract

The invention provides a RanBP9 mutant gene suffering from c.126C>T mutation. The nucleotide sequence of the RanBP9 mutant gene is shown in a SEQ ID NO:1, and the RanBP9 mutant gene is a virulence gene of human male dyszoospermia. The invention further provides a RanBP9 virulence gene exon mutant screening method based on combination of multi-PCR capture and next-generation DNA sequencing. According to the RanBP9 virulence gene exon mutant screening method, finally, Sanger sequencing is adopted to verify mutation. PCR capture primer groups include amplified primers of which the sequences are shown in SEQ ID NO:7-12, and the sequences of amplified primers, used for Sanger sequencing, of a RanBP9 gene c.126C>T mutant fragment are shown in SEQ ID NO:7-8. Forms of the RanBP9 virulence gene arereported for the first time, and bases can be provided for parsing the pathogenesis of the human male dyszoospermia, establishing a detection method of the human male dyszoospermia and the like.

Description

technical field [0001] The invention relates to a mutant gene and a detection method thereof, in particular to a human male spermatogenic disorder pathogenic gene RanBP9 and a detection method thereof. Background technique [0002] About 5% of men of reproductive age suffer from infertility problems, most of which have no known cause. Male fertility depends on functional sperm. The process of sperm production and development in the testis is controlled by several genes. If the expression process of these genes is disturbed, it will affect the formation of sperm and cause male infertility. Studies (Jianqiang Bao, et al., RAN-Binding Protein 9 is Involved in Alternative Splicing and is Critical for Male Germ Cell Development and Male Fertility. PLoS Genetics. 2014, 10(12):1-14.) show that the RanBP9 gene is The gene encoding RAN binding protein 9 can regulate the expression of fertility-related genes in the testes of mice to ensure the normal production of sperm. Therefore, R...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12N15/12C12Q1/6883C12Q1/6869
CPCC07K14/47C12Q1/6869C12Q1/6883C12Q2600/106C12Q2600/156C12Q2535/122C12Q2531/113C12Q2537/143
Inventor 黄志清其他发明人请求不公开姓名
Owner 黄志清