MMAF novel virulence gene and application thereof

A disease-causing gene and gene technology, applied in the new MMAF pathogenic gene and its application field, can solve the problem of unclear relationship between genotype and phenotype

Active Publication Date: 2017-09-19
厦门市妇幼保健院 +1
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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 MMAF has not been fully discovered, and the relationship between genotype and phenotype is not clear

Method used

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  • MMAF novel virulence gene and application thereof
  • MMAF novel virulence gene and application thereof
  • MMAF novel virulence gene and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0092] Example 1 Determine the causative gene of MMAF.

[0093] The present invention collects 27 cases of MMAF cases, all patients are infertile, and the tail deformity includes typical MMAF disease characteristics such as short tail, no tail, curly tail, bent tail and irregular tail width.

[0094] The present invention has carried out whole exome sequencing to all patients, and specific steps are as follows:

[0095] 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.

[0096] Then, the exome sequences of the above four samples were sequen...

Embodiment 2

[0104] Example 2 confirmed the above-mentioned MMAF pathogenic gene in other cases.

[0105] The present invention includes all MMAF patients, and verifies that the CFAP44 gene is the pathogenic gene of MMAF. In the verification, the Sanger method was used to verify the mutation of the CFAP44 gene, and the verification of samples within the family, outside the family, and sporadic samples were considered.

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PUM

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Abstract

The invention discloses an MMAF novel virulence gene and application thereof, and relates to the virulence genes, and the MMAF novel virulence gene CFAP44 is firstly found. A plurality of affected families and affected individuals of the MMAF are taken as study objects for sequencing and comparing exomes of the affected individuals in the families to find that CFAP44 genes of different patients have different gene mutations which are used for detecting short-tail sperms (MMAF).

Description

technical field [0001] The invention relates to a disease-causing gene, in particular to a new MMAF disease-causing 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 that the DNAH1 gene was mutated (1), which encodes the dyneinaxonemal heavy chain 1 protein. [0003] At present, the gene mutation spectrum of MMAF 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 ...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C07K14/47C12N15/12C12N15/11C12Q1/68G01N33/68
CPCC07K14/47C12Q1/6883C12Q2600/156G01N33/68G01N2800/34
Inventor 沙艳伟李萍李琳梅利斌黄娴静林绍彬王旭张庆邱乒乒龚秀芳
Owner 厦门市妇幼保健院
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