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Novel azoospermia pathogenic gene and application thereof

A sperm and gene technology, applied in the field of genes, can solve the problem of unclear relationship between genotype and phenotype

Inactive Publication Date: 2017-12-15
厦门市妇幼保健院 +3
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0003] At present, the gene mutation spectrum of acephalospermia has not been fully discovered, and the relationship between genotype and phenotype is not clear. At present, the research on monogenic diseases has begun to use a large number of whole-exome sequencing (whole-exome sequencing) and whole-genome sequencing. (whole-genome sequencing), these two methods have been successfully applied to discover the causative genes of rare monogenic diseases

Method used

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  • Novel azoospermia pathogenic gene and application thereof
  • Novel azoospermia pathogenic gene and application thereof
  • Novel azoospermia pathogenic gene and application thereof

Examples

Experimental program
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Effect test

Embodiment 1

[0046] Example 1 Determination of new pathogenic genes of acephalospermia.

[0047] A consanguineous marriage family with acephalospermia was collected, and the patient showed infertility, headless, pin-like head or loose head-tail connection and other typical characteristics of acephalospermia.

[0048] Whole-exome sequencing was performed on all patients, and the specific steps were as follows:

[0049] Sample preparation: collect the peripheral blood of the patient, use the kit to extract the genomic DNA in the peripheral blood leukocytes (QIAamp DNAMini Kit 51304. Qiagen, USA), use the NanoDrop 2000 to measure the concentration and purity of the DNA (Thermo Scientific, USA), and obtain The OD260 / OD280 of the genomic DNA of each sample is between 1.7 and 2.0, the concentration is not less than 100ng / μl, and the total amount is not less than 30μl.

[0050] Then, the exome sequences of the above patient samples were sequenced. The sequencing platform was Illumina Hiseq2000,...

Embodiment 2

[0060] Example 2 Confirm the above-mentioned pathogenic gene of acephalospermia by sequencing with Sanger method.

[0061] Patients with acephalospermia and their family members were included, and the BRDT gene was verified as the causative gene of acephalospermia. In the verification, the Sanger method was used to verify the mutation of the BRDT gene, which considered the verification of samples in the family.

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Abstract

The invention relates to a novel azoospermia pathogenic gene and an application thereof and relates to a marker for azoospermia disease and the application thereof. The novel azoospermia pathogenic gene BRDT is firstly discovered in the manner of screening in a consanguineous marriage family. After patient individuals in the family are subjected to exome sequencing and comparison on the basis of one azoospermia consanguineous marriage family as a research object, the patients are proved as carrying BRDT gene mutations. These gene mutations can be utilized to detect the azoospermia.

Description

technical field [0001] The invention relates to genes, in particular to a novel pathogenic gene mutation of acephalospermia and its application. Background technique [0002] Acephalic spermatozoa (acephalic spermatozoa) is a recessive genetic teratozoospermia that causes male infertility. It is a rare genetic disease. Its main clinical feature is that the sperm has no head or the connection between the head and the tail is loose. . Earlier studies also referred to the disease as decapitated spermatozoa or pinhead sperm. Early international studies on molecular pathogenesis found mutations in the SUN5 gene (Zhu F, Wang F, Yang X, Zhang J, Wu H, Zhang Z, He X, Zhou P, Wei Z, Gecz J and Cao Y. Biallelic SUN5 Mutations Cause Autosomal -Recessive Acephalic Spermatozoa Syndrome. Am J Hum Genet. 2016;99(4):942-949). [0003] At present, the gene mutation spectrum of acephalospermia has not been fully discovered, and the relationship between genotype and phenotype is not clear. ...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68C12N15/11G01N33/68
Inventor 沙艳伟李萍沙艳坤李琳王雄苏志英许晓慧何晓琴钟晓红林绍彬王旭梅利斌黄娴静
Owner 厦门市妇幼保健院
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