Genes are analyzed through various types of genetic testing in laboratories. These tests provide insights into the structure, function, and expression of genes. According to available information, three major types of genetic testing are used: cytogenetic, biochemical, and molecular.
Types of Gene Analysis
Here's a breakdown of each type:
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Cytogenetic Analysis: This type examines whole chromosomes. It looks for abnormalities in chromosome number or structure. Examples include:
- Detecting Down syndrome (trisomy 21)
- Identifying chromosome translocations that can cause certain cancers.
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Biochemical Analysis: This method measures the proteins produced by genes. Abnormal protein levels or structures can indicate a genetic disorder. For example:
- Testing for phenylketonuria (PKU) by measuring phenylalanine levels.
- Analyzing enzyme activity to diagnose metabolic disorders.
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Molecular Analysis: This analysis focuses on identifying small DNA mutations within genes. This is a very precise method. Examples include:
- Identifying specific mutations in the BRCA1 and BRCA2 genes that increase the risk of breast and ovarian cancer.
- Detecting mutations in genes that cause cystic fibrosis.
In summary, gene analysis involves a range of laboratory techniques that examine chromosomes, protein products, or the DNA sequence itself to identify genetic variations and disorders.
