Genetic Disorders: Identifying Indicators
Genetic disorders are caused by a change in a person’s DNA. They can be passed down from parent to child, or they can arise spontaneously. Identifying indicators of a genetic disorder can help diagnose, treat, and even prevent these conditions. There are many indicators of a genetic disorder, such as changes in physical features, abnormalities in the amount of certain proteins in the body, and problems with how cells reproduce. For example, individuals with Down Syndrome are usually characterized by certain physical features, such as a flat face, short neck, and upward slanting eyes. Additionally, people with cystic fibrosis have abnormally low levels of a certain protein known as the cystic fibrosis transmembrane conductance regulator (CFTR) (Aujla and Jain, 2016). Finally, people with a condition known as Turner Syndrome have cells that lack one of their two sex chromosomes (Klinefelter et al., 2020). These indicators can be detected through various tests, such as chromosomal analysis or genetic testing. Chromosomal analysis involves looking at the structure of a person’s chromosomes to see if anything is abnormal. Cont…
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