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ADCY10 gene mutant and application thereof

A technology of mutants and uses, applied in the field of medical testing, can solve the problems of unclear research on severe asthenozoospermia

Inactive Publication Date: 2018-09-07
BEIJING OBSTETRICS & GYNECOLOGY HOSPITAL CAPITAL MEDICAL UNIV
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0004] It can be seen that the research on severe asthenozoospermia in this field is still unclear, and the cause of the disease is even more unclear. Therefore, there is an urgent need in this field to study the pathogenic mechanism of severe asthenospermia, find new pathogenic genes and mutation site

Method used

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  • ADCY10 gene mutant and application thereof
  • ADCY10 gene mutant and application thereof
  • ADCY10 gene mutant and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0035] Example 1 Determining the causative gene of severe asthenospermia

[0036] A case of severe asthenozoospermia in a nuclear family collected by the inventor in China, the patient was infertile, 30 years old, his parents were not married by consanguineous relatives, the patient had no history of exposure to harmful chemicals and bad habits. The genitals developed normally, the size of the bilateral testes was normal, and the bilateral spermatic veins were untouched. The karyotype analysis of peripheral blood was normal, and the detection of Y chromosome microdeletion showed no abnormalities. No upper respiratory tract diseases such as bronchiectasis, no visceral transposition, no history of sinusitis. The 3 semen tests showed that the sperm density was 54-56.6 million / mL, and the forward motile sperm accounted for 1.3-1.8%. The Pap staining reading of the improved sperm morphology showed 4% of normal sperm, and no abnormalities were found in the rest. Sex hormones are a...

Embodiment 2

[0047] Example 2 Confirmation of the above-mentioned causative gene of severe asthenozoospermia by Sanger sequencing

[0048] Next, the inventor included patients with severe asthenospermia and their family members, and verified that the ADCY10 gene is the causative gene of severe asthenospermia. In the verification, the Sanger method was used to verify the mutation of the ADCY10 gene, which considered the verification of samples in the family.

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Abstract

The invention relates to a marker of severe asthenospermia and application of the marker. More specifically, the invention provides an isolated nucleic acid encoding an ADCY10 mutant; compared with SEQ ID NO: 1, the nucleic acid has one or two of the following mutations: c.2398G>A mutation and c.3829A>G mutation; the invention further provides polypeptide encoding the nucleic acid, application anda detection method of the nucleic acid and the polypeptide to detection of the severe asthenospermia, and a primer and a kit which are prepared from the nucleic acid and the polypeptide. According tothe marker provided by the invention, a core family of the severe asthenospermia is used as a research object and whole exome sequencing and comparison are carried out on affected individuals in thefamily to finds out new pathogenic genes and mutation sites, so that the severe asthenospermia is detected by utilizing the new pathogenic genes and the mutation sites.

Description

technical field [0001] The invention relates to the field of medical examination, in particular to an ADCY10 gene mutant and application thereof. Background technique [0002] Severe asthenospermia is a relatively common teratozoospermia that causes male infertility. It is a disease related to genetics, lifestyle and other factors. Its main clinical feature is the severe loss of sperm motility. Early studies on the molecular pathogenesis abroad found that SLC26A8, CATSPER2, GALNTL5, SPAG17 and other genes were mutated, which led to abnormal morphology and movement of sperm tails. [0003] At present, the gene mutation spectrum of severe asthenozoospermia has not been fully discovered, and the relationship between genotype and phenotype is not clear. At present, the research on single-gene diseases has begun to use a large number of whole-exome sequencing (whole-exome sequencing) and whole-genome sequencing (whole-genome sequencing) methods. disease gene. Whole-exome seque...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12N15/12C12N15/11C07K14/47C12Q1/6883G01N33/68
CPCC07K14/47C12Q1/6883C12Q2600/156G01N33/6893G01N2333/47G01N2800/34
Inventor 王程荣沙艳伟阴赪宏李琳岳文涛
Owner BEIJING OBSTETRICS & GYNECOLOGY HOSPITAL CAPITAL MEDICAL UNIV
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