Detection of genetic disease

The ability to chemically synthesize DNA is quite important. This synthetic DNA is used in cloning, in site-directed mutagenesis (which enables the preparation of a protein with a different amino acid at a single site), and in the diagnosis and prenatal detection of genetic diseases. 

DNA analysis is of growing importance for various purposes, such as transplantation of organs, detection of genetic diseases, investigation of the evolution of species, or identification of criminals in forensic science. 

Amniocentesis, obtaining fetal cells for genetic analysis, offers some hope for early detection of genetic diseases. However, only when we meister genetic engineering will we be able to prevent genetic disorders. For now, the best treatment is early detection. 

While many diseases have long been known to result from alterations in an individual s DNA, tools for the detection of genetic mutations have only recently become widely available. These techniques rely upon the catalytic efficiency and specificity of enzyme catalysts. For example, the polymerase chain reaction (PCR) relies upon the ability of enzymes to serve as catalytic amplifiers to analyze the DNA present in biologic and forensic samples. In the PCR technique, a thermostable DNA polymerase, directed by appropriate oligonucleotide primers, produces thousands of copies of a sample of DNA that was present initially at levels too low for direct detection. 

DNA fingerprinting, also known as DNA typing, is a method of identification that compares fragments of DNA. This technique was first developed in 1985, originally used to detect the presence of genetic diseases. With the exception of identical twins, the complete DNA of each individual is unique. 

Propionyt-CoA carboxylase may be defective in a rare genetic disease, Please devise a test for the detection of this disease. 

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