Genetic diagnosis of hyperandrogenic syndrome

Hyperandrogenic syndrome occurs as a result of abnormal chromosome segregation during sperm meiosis and can be determined through genetic diagnosis. Genetic diagnosis, also known as DNA probe diagnosis, is a method of diagnosing a disease by detecting certain specific genes. Genes are the basic units of an organism’s inheritance and are found on the chromosomes of cells, with DNA as their material basis. Different traits of an organism are determined by its different genes. Genetic diagnosis is based on the principle of hybridization of DNA molecules to detect the presence of genes, types and defects of genes for the purpose of diagnosing diseases. The problem to be solved is the detection of exogenous genes (microorganisms. Viruses and parasitic protozoa bring their genes into the body after invasion) and detecting abnormalities in endogenous genes (genes of various hereditary diseases). Genetic diagnosis requires a highly purified, specific gene probe, which is actually a nucleic acid sequence (DNA or RNA) associated with a known gene. Commonly used methods for gene diagnosis include speckle hybridization, Southern blotting, and direct detection with synthetic probes, etc. The successful detection of the thalassemia gene in 1975 can be considered the beginning of gene diagnosis. The traditional diagnostic method is to infer the genotype by the phenotype, while genetic diagnosis starts from the gene to infer the phenotype, i.e., bypassing the gene product and diagnosing by probing the gene directly, which is not limited by the cell type and age of onset and can be used for the diagnosis of all genetic diseases. The main diagnostic methods: 1, spot hybridization method: the DNA to be tested is heated so that the double strand becomes a single strand, and then spot added to the nitrocellulose filter membrane, and then the labeled probe is added for hybridization test to determine the presence or absence and number of genes under test. This method can be used to detect exogenous genes (DNA of enterovirus, adenovirus, hepatitis B virus, AIDS and other related viruses) and DNA of Plasmodium falciparum and Trypanosoma cruzi. 2. DNA hybridization blotting method: DNA to be tested is digested with specific restriction endonucleases to form many fragments of varying lengths, and then blotted onto a nitrocellulose filter membrane after electrophoretic separation and heating, and then hybridized with a labeled probe to determine the status of gene alteration. Synthetic oligonucleotide probes can be used for direct detection.