A person with only one copy of a defective gene often does not develop the associated disorder due to the presence of a normal copy of the gene, which can provide sufficient functional protein or activity to maintain normal physiological processes. This phenomenon is known as "haplosufficiency," where one functional allele compensates for the defective one. Additionally, many genetic disorders are recessive, meaning that both copies of the gene must be defective for the disorder to manifest.
The medical term for a condition caused by defective genes is genetic disorder. These disorders are caused by abnormalities in an individual’s DNA and can result in a wide range of symptoms and health issues.
One example of a disorder that exhibits incomplete dominance is familial hypercholesterolemia. In this condition, individuals inherit one copy of a defective gene for cholesterol metabolism from one parent, resulting in high blood cholesterol levels. If an individual inherits two copies of the defective gene (one from each parent), their cholesterol levels are even higher.
Gaucher disease has a recessive pattern of inheritance, meaning that a person must inherit a copy of the defective gene from both parents in order to have the disease.
Phenylketonuria is an autosomal recessive genetic disorder. This means that an individual must inherit two copies of the defective gene (one from each parent) in order to develop the condition.
hemophilia
hemophilia
genetic disorder
That is the definition of a genetic disorder.
A person with only one copy of a defective gene often does not develop the associated disorder due to the presence of a normal copy of the gene, which can provide sufficient functional protein or activity to maintain normal physiological processes. This phenomenon is known as "haplosufficiency," where one functional allele compensates for the defective one. Additionally, many genetic disorders are recessive, meaning that both copies of the gene must be defective for the disorder to manifest.
An autosomal dominant disorder that results in a defective or deficient LDL receptor is known as familial hypercholesterolemia. (FH). Most patient with FH do not live beyond 30 without intervention.
Color blindness is a sex-linked genetic disorder. The reason that it is more prevalent in males is because the disorder is linked the the X-chromasome. If a male inherits an X chromosome that is defective, then they will be color blind. However, a female has two X chromosomes which means she can receive a defective chromosome and only be a carrier of the mutation. If she receives two defective x chromosomes, she will be colorblind.
Hemophilia
Males have XY - therefore they only need one copy of the defective X in order to have the disorder.Females have XX - meaning they would need two copies of the defective allele in order to have the disorder. This means their father must have the disorder, and their mother must either have the disorder or be a carrier.
a new gene which codes for the protein that can repair defective genes is introduced.
Yes, because it is "autosomal recessive hereditary disorder".
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