genetic disorders

automsomal dominant disorders

Huntingtons disease is an example of an autosomal dominant disorder. This means that if the dominant allele is present, then the person will express the disease. A child only has to inherit one dominant allele to have the disease. The disease causes the brains cells to break down, leading to muscle spasms and personality changes. Unlike most other genetic disorders, the symptoms usually do not become apparent until middle age. You can use a simple Punnett square to predict the inheritance of a dominant autosomal disorder, like Huntingtons disease. If one parent has Huntingtons disease, what is the chance of passing it on to the children? If you draw the Punnett square, you will find that there is a 50 percent chance of the disorder being passed on to the children.

human genetic disorders

Many genetic disorders are caused by mutations in one or a few genes. Others are caused by chromosomal mutations. Some human genetic disorders are X-linked or Y-linked, which means the faulty gene is carried on these sex chromosomes. Other genetic disorders are carried on one of the other 22 pairs of chromosomes; these chromosomes are known as autosomes or autosomal (non-sex) chromosomes. Some genetic disorders are due to new mutations, others can be inherited from your parents.

autosomal recessive disorders

Some genetic disorders are caused by recessive alleles of a single gene on an autosome. An example of autosomal recessive genetic disorders are Tay-Sachs disease and cystic fibrosis. Children with cystic fibrosis have excessively thick mucus in their lungs, which makes it difficult for them to breathe. The inheritance of this recessive allele is the same as any other recessive allele, so a Punnett square can be used to predict the probability that two carriers of the disease will have a child with cystic fibrosis. Recall that carriers have the recessive allele for a trait but do not express the trait. What are the possible genotypes of the offspring in the following table ( Table 1.1)? What are the possible phenotypes? F FF (normal) Ff (carrier) F f f Ff (carrier) ff (affected) According to this Punnett square, two parents that are carriers (Ff ) of the cystic fibrosis gene have a 25% chance of having a child with cystic fibrosis (ff ). The affected child must inherit two recessive alleles. The carrier parents are not affected. Tay-Sachs disease is a severe genetic disorder in which affected children do not live to adulthood, so the gene is not passed from an affected individual. Carriers of the Tay-Sachs gene are not affected. How does a child become affected with Tay-Sachs?

instructional diagrams

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questions

a genetic disorder is due to a mutation in your dna.

-->  a. true

b. false

genetic disorders are contagious.

a. true

-->  b. false

for a child to have cystic fibrosis, the child had to

a) inherit two dominant alleles.

-->  b) inherit two recessive alleles.

c) inherit one dominant and one recessive allele.

d) none of the above

for a child to have huntingtons disease, the child had to

a) inherit two dominant alleles.

b) inherit two recessive alleles.

-->  c) inherit one dominant and one recessive allele.

d) none of the above

tay sachs is an autosomal recessive disorder in which affected individuals die in their childhood. for a child to have tay sachs,

-->  a) both parents must be carriers.

b) both parents must have the disease.

c) only one parent must have the disease.

d) the child must inherit at least one disease allele.

a man with cystic fibrosis marries a normal woman. what is the chance that they will have an affected child?

-->  a) 0

b) 25%

c) 50%

d) 100%

what is the chance that two carriers of the cystic fibrosis allele will have a carrier child?

-->  a) 0

b) 25%

c) 50%

d) 100%

diagram questions

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