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Phenylketonuria (PKU) is a genetic disease that affects chromosome number 12. Because PKU affects one of the first 22 chromosomes and is not sex linked it is autosomal. Specifically, PKU is autosomal recessive meaning that it only manifests itself if there are two copies of the mutated allele are present. PKU is a rare disease in the United States with less than 20,000 cases per year. This disease causes an over production of phenylalanine which causes a variety of different systems. Symptoms of PKU are developmental disabilities like: failure to thrive, short stature and etc. PKU can also cause: a urine like odor emanating from the body, slowness in growth and educational slowness. PKU is tested for at birth by a heel prick blood test. PKU is a chronic disease meaning that it can never be cured. Even though PKU lasts a life time it is easily treatable, by maintaining a low protein diet PKU is not as severe as is could be. Daily life for someone that has PKU is normal, is the proper steps are taken. For example, avoiding meat and dairy products. In some cases avoiding meat and dairy is difficult when: someone with the illness is a social function or in their school cafeteria. Also when eating people with this disease have to watch out for the amount of Phenylalanine (PHE) in the foods that they are eating.
A genetic counselor is someone who talks to couples about their genes and their possible child’s allele combinations. Genetic counselors also research mutations and find cures and prevention for these mutations. Some of the reasons that a couple might seek out a genetic counselor could be that they are planning to conceive but the fathers family has a history of diabetes and the two people want to know their child’s chances of developing the disease. Genetic counselors can also advise lawmakers about issues such as genetic discrimination. Genetic counselors are required to have a master’s degree and s major in biology, psychology or etc.
A family pedigree can be helpful when speaking with a doctor about the probability of you developing an inherited disease. A family pedigree is also helpful when two people with a history of a genetic disease in their family are planning to conceive a child.
When there is a monohybrid cross with only recessive alleles this disease will manifest in a person, otherwise the person will just be a carrier of the disease with the possibility of inheritance.
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