A gene sequencer, also known as a DNA sequencer, is an instrument for determining the base sequence, type and quantification of DNA fragments. It is mainly used in human genome sequencing, genetic diagnosis of human genetic diseases, infectious diseases, and cancer; forensic paternity testing and individual identification; bioengineering drug screening; animal and plant hybrid breeding, etc.
2. Clinical application of gene sequencer
(1) Application in the diagnosis of infectious diseases
Sequencing technology can accurately analyze the base sequence. Through sequence comparison, various pathogens can be directly identified, typed and traced, and the gene sequences of pathogens associated with infectious diseases can be determined, thereby guiding the efficacy and safety of medication. Additionally, genetic sequencing can identify new pathogens enhance prevention.
(2) Application in the diagnosis of genetic diseases
Diseases caused by genetic mutations are hereditary and lifelong; once present, they will bring suffering to individuals and their families. By sequencing the genes of tested individuals, analyzing mutation status, determining the presence of genetic diseases or inferring the probability of the disease in the offspring, it provides guidance for marriage and childbirth, and reduces the incidence of genetic diseases.
(3) Application in tumor diagnosis
The occurrence of tumors is the result of the combined action of genetic genes and environmental factors, with genetic factors being internal determinants related to tumor susceptibility genes. Detection of tumor susceptibility genes can identify whether there are tumor susceptibility genes or familial aggregation carcinogenic factors, and provide personalized guidance based on individual conditions.
(4) Application in drug susceptibility gene testing
Individual genotypic differences may lead to different responses to the same drug. Determining the corresponding genotype of patients can achieve more accurate medication and improve medication effects to a greater extent.
(5) Application in non-invasive prenatal screening
Prenatal screening of the fetus through gene sequencing involves detecting fetal genes from maternal peripheral blood to assess fetal health status prenatally, such as screening for Down syndrome.
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