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Many diseases arise from genetic mutations that prevent synthesizing critical proteins. One such disease is Lowe disease (or oculocerebrorenal syndrome, because it affects the eyes, brain, and kidneys). In Lowe disease, there is a deficiency in an enzyme localized to the Golgi apparatus. Children with Lowe disease are born with cataracts, typically develop kidney disease after the first year of life, and may have impaired mental abilities.
– What debate involves whether human behavior is determined by the environment, either prenatal or during a person’s life, or by a person’s genes?
A mutation on the X chromosome causes Lowe disease. The X chromosome is one of the two human sex chromosomes, as these chromosomes determine a person’s sex. Females possess two X chromosomes while males possess one X and one Y chromosome. In females, the genes on only one of the two X chromosomes are expressed. Females who carry the Lowe disease gene on one of their X chromosomes are carriers and do not show symptoms of the disease. However, males only have one X chromosome and the genes on this chromosome are always expressed. Therefore, males will always have Lowe disease if their X chromosome carries the Lowe disease gene. Geneticists have identified the mutated gene’s location, as well as many other mutation locations that cause genetic diseases. Through prenatal testing, a woman can find out if the fetus she is carrying may be afflicted with one of several genetic diseases.
– What is a distinct variant of a phenotypic characteristic of an organism which may be either inherited or determined environmentally, but typically occurs as a combination of the two?
Geneticists analyze prenatal genetic test results and may counsel pregnant women on available options. They may also conduct genetic research that leads to new drugs or foods, or perform DNA analyses for forensic investigations.
When studying human genetic diseases, geneticists often use pedigree charts to represent the inheritance of traits. These charts map the inheritance of a trait in a family tree.