Review Questions # 5
2. Distinguish between autosomal dominant and autosomal recessive disorders and provide a couple examples of each. When dealing with genetic disorders its important to understand how they are inherited. There are two ways a child can inherited a genetic disorder from their parents. Autosomal dominant disorder is where one parent has a genetic disorder in which it has already manifested such as familial hypercholesterolaemia, marfan’s syndrome, and achondroplasia(dwarfism) and this dominant gene is inherited by their child who will also develop the disorder. Autosomal recessive disorder is where both parents are unaware or do not display the genetic disorder they carry and the child inherits both recessive genes in which the child will develop the disorder. Recessive disorders include cystic fibrosis, sick-cell anaemia, and albinism. …show more content…
This genetic mutation is an autosomal dominant disorder where low-density lipoprotein (LDL) aka “The Bad Cholesterol” is unable to be cleared from the bloodstream and will then accumulate in tissues and arteries. The two forms of the disorder depend on the genes they inherit from their parents. Heterozygous FH is where a patient acquired this disorder from one affected parent. The patient will have an elevated cholesterol at the onset of birth and over time develop fatty deposits under their skin called xanthalasmas. Typically, affected individuals will not even know they have FH until the sudden onset of some form of cardiovascular event such as a heart attack. Homozygous FH is the more serve form of the two since the disorder is more accelerated. This occurs when a patient inherits both genetic mutations of the gene and will start to develop early onset of cardiovascular disorders during childhood. Most patients will not survive long into adulthood due the high levels of cholesterol in the
2. Distinguish between autosomal dominant and autosomal recessive disorders and provide a couple examples of each. When dealing with genetic disorders its important to understand how they are inherited. There are two ways a child can inherited a genetic disorder from their parents. Autosomal dominant disorder is where one parent has a genetic disorder in which it has already manifested such as familial hypercholesterolaemia, marfan’s syndrome, and achondroplasia(dwarfism) and this dominant gene is inherited by their child who will also develop the disorder. Autosomal recessive disorder is where both parents are unaware or do not display the genetic disorder they carry and the child inherits both recessive genes in which the child will develop the disorder. Recessive disorders include cystic fibrosis, sick-cell anaemia, and albinism. …show more content…
This genetic mutation is an autosomal dominant disorder where low-density lipoprotein (LDL) aka “The Bad Cholesterol” is unable to be cleared from the bloodstream and will then accumulate in tissues and arteries. The two forms of the disorder depend on the genes they inherit from their parents. Heterozygous FH is where a patient acquired this disorder from one affected parent. The patient will have an elevated cholesterol at the onset of birth and over time develop fatty deposits under their skin called xanthalasmas. Typically, affected individuals will not even know they have FH until the sudden onset of some form of cardiovascular event such as a heart attack. Homozygous FH is the more serve form of the two since the disorder is more accelerated. This occurs when a patient inherits both genetic mutations of the gene and will start to develop early onset of cardiovascular disorders during childhood. Most patients will not survive long into adulthood due the high levels of cholesterol in the