Autosomal Dominant and Recessive Disorders

Question 1

describe potential causes of disease

Answer 1

1. single gene disorder
2. chromosomal disorder
3. multifactorial genetic disorder
4. somatic cell disorder

Question 2

polymorphism

Answer 2

normal differences between in coding and non-coding regions of individuals, with no selective advantages

Question 3

autosomal recessive

Answer 3

• largest group of single gene disorders
• genes responsible on chromosomes 1-22 (not sex chromosomes)
• disorder where the phenotype is only expressed in the homozygous state (both alleles are mutant)

Question 4

compound heterozygosity

Answer 4

where a patient has a mutation from each parent in a different part of the same gene