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Pathogenic mutation of genetic gametogenesis disorder and detection reagent thereof

A technology of reagents and kits, which is applied in the field of pathogenic mutations and detection reagents of hereditary male and female gametogenesis disorders, and can solve problems such as unreported

Active Publication Date: 2021-01-15
NANJING MATERNITY & CHILD HEALTH CARE HOSPITAL
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  • Abstract
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  • Application Information

AI Technical Summary

Problems solved by technology

[0008] The Pof1b (premature ovarian failure 1B) gene (NC_000023.11) is located at Xq21.1 on the long arm of the X chromosome. The gene contains 17 exons, and the encoded POF1B protein contains 589 amino acids. Current studies have reported that Pof1b gene mutations can Cause premature ovarian failure, but its relationship with primary ovarian insufficiency and non-obstructive azoospermia has not been reported at home and abroad

Method used

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  • Pathogenic mutation of genetic gametogenesis disorder and detection reagent thereof
  • Pathogenic mutation of genetic gametogenesis disorder and detection reagent thereof
  • Pathogenic mutation of genetic gametogenesis disorder and detection reagent thereof

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Experimental program
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Effect test

Embodiment 1

[0045] To detect the Pof1b gene mutation in a family with hereditary primary ovarian insufficiency and azoospermia.

[0046] experimental method:

[0047] 1. Collection of clinical resources of the family and establishment of a genetic resource bank:

[0048] The clinical data of each member of the family and blood samples of two patients (III:6, III:8) and their parents were collected. The proband in this family is patient III:8, male, who was diagnosed with non-obstructive azoospermia in our hospital two years ago; his brother has normal fertility; his sister (III:6) has hereditary primary ovarian Insufficient, its parents are not consanguineous. (Family diagram see figure 1 ). Clinical data mainly include personal medical history, family history, birth history, etc. Genomic DNA was extracted from the blood of two patients (III:6, III:8) and their parents with a blood genomic DNA extraction kit (Qiagen, Hilden, Germany).

[0049] 2. Discover the pathogenic mutations in...

Embodiment 2

[0077] Biological analysis was performed on the pathogenic mutations Pof1b c.312_316del p.S104fs and Pof1bc.1325A>G p.E442G detected in Example 1.

[0078] experimental method:

[0079] 1. Conservative analysis:

[0080] The NCBI HomoloGene database (http: / / www.ncbi.nlm.nih.gov / homologene) was used to evaluate and predict the conservation of the screened mutations in multiple species. The change point is conserved in the evolution process, which confirms that the mutation of the change point may cause more serious pathological diseases. The results are shown in Figure 7 .

[0081] 2. Research on protein crystal structure changes:

[0082] SWISS MODEL (http: / / swissmodel.expasy.org / ) prediction software was used to predict the structure of the POF1B wild-type protein and the mutant protein carrying the p.S104fs mutation, and evaluate the protein structure changes caused by the mutation. The prediction results of the protein crystal structure showed that the c.312_316del p.S...

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Abstract

The invention discloses pathogenic mutation of genetic gametogenesis disorder and a detection reagent thereof. The invention relates to a mutant Pof1b gene, the mutant Pof1b gene is located in a chromosome X and is deletion mutation c.312_316delp.S104fs, the gene number of the wild type Pof1b gene in an Ensemble database is ENSG00000124429, the physical position of the deletion mutation Pof1b geneis a third exon, five bases TACAT are deleted at chrX-84622737-84622742, and following sequences cause frameshift mutation. The mutant Pof1b gene or the mutant POF1B protein is used as a detection target to be applied to preparation of an auxiliary diagnosis reagent or detection equipment for male non-obstructive azoospermia or female hereditary primary ovarian insufficiency.

Description

technical field [0001] The invention belongs to the field of biomedicine and relates to a pathogenic mutation of hereditary male and female gametogenesis disorder and a detection reagent thereof. Background technique [0002] Primary ovarian insufficiency (POI) refers to amenorrhea in women before the age of 40, accompanied by increased gonadotropin levels and decreased estrogen levels, and a certain degree of perimenopause caused by a series of low estrogen levels. Symptoms such as hot flashes, hyperhidrosis, facial flushing, low libido, mood changes, etc. About 1-2% of women of childbearing age suffer from this disease. According to the development process of the disease, primary ovarian insufficiency is divided into three development stages: occult stage, biochemical abnormal stage, and clinical failure stage. Premature ovarian failure (POF) is the terminal stage. POF means that there are very few eggs that can develop and ovulate, and there is still no effective way to ...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12N15/12C12Q1/6883G01N33/68G01N33/53
CPCC07K14/47C12Q1/6883C12Q2600/156G01N33/53G01N33/689G01N2800/367
Inventor 凌秀凤张军强杨烨郎鹏沈嵘张笑兰曹善仁周林
Owner NANJING MATERNITY & CHILD HEALTH CARE HOSPITAL
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