Question

Chapter 9: The discussion topic for this week is very interesting, as it is likely that everyone at least knows someone who has some type of genetic disorder or has heard about a disorder that they wanted to understand more fully. You should look into a specific disorder and provide more information about it from any angle you like. Please be sure to include some information that pertains to the chapter (like the inheritance pattern--that is, whether it is autosomal dominant or recessive or sex-linked or whatever). ***I absolutely need in text citations and the ending reference citations...*****

You should look into a specific disorder and provide more information about it from any angle you like.

Please be sure to include some information that pertains to the chapter (like the inheritance pattern---this is the question

Answer 1

Modes of Inheritance

• Inheritance patterns help to predict the recurrence risk for relatives.
• In general, inheritance patterns for single gene disorders are classified based on whether they are autosomal or X-linked and whether they have a dominant or recessive pattern of inheritance. These disorders are called Mendelian disorders, after the geneticist Gregor Mendel.

Autosomal Dominant Inheritance

• In autosomal dominant inheritance, only one copy of a disease allele is necessary for an individual to be susceptible to expressing the phenotype.
• With each pregnancy, there is a one in two (50%) chance the offspring will inherit the disease allele.
• Unless a new mutation has occurred, all affected individuals will have at least one parent who carries the disease allele.
• Autosomal dominant inheritance is often called vertical inheritance because of the transmission from parent to offspring.
• Across a population, the proportion of affected males should be equal to the proportion of affected females.
• Male-to-male transmission can be observed.
• Examples of diseases with autosomal dominant inheritance include myotonic muscular dystrophy and Huntington disease.

Autosomal Recessive Inheritance

• In autosomal recessive inheritance, two copies of a disease allele are required for an individual to be susceptible to expressing the phenotype.
• Typically, the parents of an affected individual are not affected but are gene carriers.
• As with autosomal dominant inheritance, the proportion of affected males should be equal to the proportion of affected females in a given population.
• Examples of diseases with autosomal recessive inheritance include sickle cell anemia and cystic fibrosis.

X-Linked Dominant Inheritance

• As in autosomal dominant inheritance, only one copy of a disease allele on the X chromosome is required for an individual to be susceptible to an X-linked dominant disease.
• Both males and females can be affected, although males may be more severely affected because they only carry one copy of genes found on the X chromosome. Some X-linked dominant disorders are lethal in males.
• When a female is affected, each pregnancy will have a one in two (50%) chance for the offspring to inherit the disease allele. When a male is affected, all his daughters will be affected, but none of his sons will be affected.

X-Linked Recessive Inheritance

• As in autosomal recessive inheritance, two copies of a disease allele on the X chromosome are required for an individual with two X chromosomes (a female) to be affected with an X-linked recessive disease.
• Since males are hemizygous for X-linked genes (they have only one X chromosome), any male with one copy of an X-linked recessive disease allele is affected.
• Females are usually carriers because they only have one copy of the disease allele. Affected males are related through carrier females.
• For a carrier female, with each pregnancy there is a one in two (50%) chance her sons will inherit the disease allele and a one in two (50%) chance her daughters will be carriers.
• Women are affected when they have two copies of the disease allele. All of their sons will be affected, and all of their daughters will be unaffected carriers.
• Examples of diseases with X-linked recessive inheritance include Duchenne muscular dystrophy, hemophilia A and hypohidrotic or anhidrotic ectodermal dysplasi