Pathogenic mutation of genetic gametogenesis disorder and detection reagent thereof

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 ...

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