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.
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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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