Medical genetics and cancer - Inheritance patterns of genetic diseases

10 important questions on Medical genetics and cancer - Inheritance patterns of genetic diseases

What are seven observations that are consistent with the idea that a disease is caused by the inheritance of mutant genes?

  1. An individual who exhibits a disease is more likely to have genetic relatives with the disorder than are people in the general population.
  2. Identical twins share the disease more often than nonidentical twins.
  3. The disease does not spread to individuals sharing similar environmental situations.
  4. Different populations tend to have different frequencies of the disease.
  5. The disease tends to develop at a characteristic age.
  6. The human disorder may resemble a disorder that is already known to have a genetic basis in an animal.
  7. A correlation is observed between a disease and a mutant human gene or a chromosomal alteration.

What are dizigotic (DZ) twins?

Dizygotic (DZ) twins are nonidentical twins, also called fraternal twins.

What does a high concordance mean?

A high concordance means a high chance of getting the disease in a family.
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What are four common features of autosomal recessive inheritance?

  1. Frequently, an affected offspring has two unaffected parents.
  2. When two unaffected heterozygotes have children, the percentage of affected children is (on average) 25%.
  3. Two affected individuals have 100% affected children.
  4. The trait occurs with the same frequency in both sexes.

What are five common features of autosomal dominant inheritance?

  1. An affected offspring usually has one or two affected parents.
  2. An affected individual with only one affected parent is expected to produce 50% affected offspring (on average).
  3. Two affected heterozygous individuals have (on average) 25% unaffected offspring.
  4. The trait occurs with the same frequency in both sexes.
  5. For most dominant, disease-causes alleles, the homozygote is more severely affected with the disorder. In some cases, a dominant allele may be lethal in the homozygous condition.

What three observations reveal an X-linked recessive inheritance?

  1. Males are much more likely to exhibit the trait.
  2. Mothers of affected males often have brothers or fathers who are also affected.
  3. Daughters of affected males produce, on average, 50% affected sons.

What feature(s) of this pedigree indicate(s) X-linked recessive inheritance?

The key feature is that all of the affected individuals are males. Furthermore, these males all have mothers who were descendants of Queen Victoria.

What is the pattern for X-linked dominant inheritance?

  1. Only females exhibit the trait when it is lethal to males.
  2. Affected mothers have 50% chance of passing the trait to daughters.

What is locus heterogeneity?

Locus heterogeneity refers to a genetic disorder that is caused by mutations in two or more genes.

What feature(s) of this pedigree indicate(s) recessive inheritance?

The key feature is that affected offspring have both parents who are unaffected by the disease. The parents are heterozygous carriers.

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