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Novel MMAF (multiple morphological abnormalities of the sperm flagella) pathogenic gene and application thereof

A gene and genome technology, applied to new MMAF pathogenic genes and their application fields, can solve problems such as unclear and unclear MMAF research.

Active Publication Date: 2017-12-29
厦门市妇幼保健院 +4
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Therefore, the research on MMAF in this field is still unclear, and the cause of the disease is even more unclear. It is urgent to study the pathogenic mechanism of MMAF and find new pathogenic genes and mutation sites.

Method used

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  • Novel MMAF (multiple morphological abnormalities of the sperm flagella) pathogenic gene and application thereof
  • Novel MMAF (multiple morphological abnormalities of the sperm flagella) pathogenic gene and application thereof
  • Novel MMAF (multiple morphological abnormalities of the sperm flagella) pathogenic gene and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0063] Example 1: Determination of the causative gene of MMAF.

[0064] A total of 27 MMAF cases were collected, all of them showed infertility, and the tail deformity included typical MMAF disease features such as short tail, no tail, curly tail, bent tail, and irregular tail width.

[0065] The present invention has carried out whole exome sequencing to all patients, and specific steps are as follows:

[0066] Sample preparation: Collect the peripheral blood of the patient and his parents and family members, use the kit to extract the genomic DNA in the peripheral blood leukocytes (QIAamp DNA Mini Kit 51304.Qiagen, USA), and use the NanoDrop 2000 to measure the concentration and purity of the DNA (Thermo Scientific , USA), the OD260 / OD280 of the genomic DNA of each sample obtained was between 1.7 and 2.0, the concentration was not less than 100ng / μl, and the total amount was not less than 30μl.

[0067] Then, the exome sequences of the above four samples were sequenced. Th...

Embodiment 2

[0075] Example 2: Confirmation of the above-mentioned MMAF causative gene in other cases.

[0076] The present invention includes all MMAF patients, and verifies that the CFAP43 gene is the pathogenic gene of MMAF. In the verification, the Sanger method was used to verify the mutation of the CFAP43 gene, and the verification of samples within the family, outside the family, and sporadic samples were considered.

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Abstract

The invention relates to markers for multiple morphological abnormalities of the sperm flagella and their application, in particular to a novel MMAF (multiple morphological abnormalities of the sperm flagella) pathogenic gene and application thereof. More particularly, the novel MMAF pathogenic gene CFAP43 is discovered for the first time via large-scale whole-exome sequencing screening. In the case of using multiple families and individuals with MMAF as study subject, the individuals in the families are subjected to exome sequencing and comparing, and it is discovered that the different patients show different gene mutations in the gene CFAP43. By using these mutations, it is possible to detect multiple morphological abnormalities of the sperm flagella.

Description

technical field [0001] The invention relates to genes, in particular to a new MMAF pathogenic gene and its application. Background technique [0002] Mμltiple morphological abnormalities of the sperm flagella (MMAF) is a recessively inherited teratozoospermia that causes male infertility. The sum of tail abnormalities, including short tails, tailless tails, curled tails, bent tails, and tails of irregular width. In the early research, there are also literatures calling this disease as dysplasia of the fibrous sheath (DFS), short tails, stump tails. Early studies on the pathogenesis of molecular aspects in foreign countries found mutations in the DNAH1 gene (Ben Khelifa M, Coutton C, Zouari R, Karaouzene T, Rendu J, Bidart M, Yassine S, Pierre V, Delaroche J, Hennebicq S, Grunwald D, Escalier D , Pernet-Gallay K, Jouk PS, Thierry-Mieg N, Toure A, et al. Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from mμltiple morphological ab...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68C12N15/11G01N33/68
CPCC12Q1/6883C12Q2600/156G01N33/6893G01N2333/47G01N2800/367
Inventor 沙艳伟李萍沙艳坤李琳王雄李柱施迎迎康小娟陈亚芳江丽枝林海鹰廖露莹骆向璐
Owner 厦门市妇幼保健院
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