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

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...

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Bibliographische Detailangaben
Hauptverfasser:	LI ZHU, LUO XIANGLU, SHI YINGYING, SHA YANWEI, LIAO LUYING, CHEN YAFANG, LI LIN, LI PING, WANG XIONG, LIN HAIYING, KANG XIAOJUAN, JIANG LIZHI, SHA YANKUN
Format:	Patent
Sprache:	chi ; eng
Schlagworte:	BEER BIOCHEMISTRY CHEMISTRY COMPOSITIONS OR TEST PAPERS THEREFOR COMPOSITIONS THEREOF CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES CULTURE MEDIA ENZYMOLOGY INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIRCHEMICAL OR PHYSICAL PROPERTIES MEASURING MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS METALLURGY MICROBIOLOGY MICROORGANISMS OR ENZYMES MUTATION OR GENETIC ENGINEERING PHYSICS PROCESSES OF PREPARING SUCH COMPOSITIONS PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS SPIRITS TESTING VINEGAR WINE
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Beschreibung
Zusammenfassung:	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. 种MMAF致病新基因及其应用，涉及精子尾部多种形态异常疾病的标记物及其应用。更具体而言，经过大规模全外显子组测序筛选，首次发现种MMAF致病新基因CFAP43。以MMAF多个患病家系及患病个体为研究对象，对家系中的患病个体进行了外显子组测序和比较，发现不同患者CFAP43基因存在不同的基因突变。利用这些突变可以对精子尾部多种形态异常进行检测。