NURS 617 2025/2026 FINAL EXAM QUESTIONS WITH 100%
CORRECT ANSWERS
Autosomal Dominant - The defect is on the short arm of chromosome 4
Rare; most common is 1 in 500
1 copy causes the phenotype, Normal parent with a heterozygous parent, half of the children will be
normal, and the other half will express the disease. 50% chance of inheriting that disorder
mutation autosomal dominant - If a child is born with an autosomal dominant disease but there is no
family history, this is probably a new mutation.
However, the other germ cells are still normal and the chances of another child having the disease
again is the same as the general population
transmission autosomal dominant - Males and females are equally as likely to transmit the mutation
no skipping a generation (if neither parent has the mutation, none of the children will)
examples of autosomal dominant - Huntington's, Progressive dementia, Marfan's
Autosomal Recessive - individual must be homozygous to express the disease, carriers able to survive
normally
Both parents of affected individuals are heterozygous carriers
transmission autosomal recessive - Males and females are in equal proportion, Seen in siblings but
usually not their parents; ¼ of the offspring will be affected, Consanguinity-marriage between related
individuals = more likely to share the same recessive disease-causing alleles
Characterization of autosomal recessive - characterized by delayed age of onset, incomplete
penetrance, and variable expressivity
example autosomal recessive - Cystic fibrosis (1 in 2500 births), 1 in 25 white adults are carriers
X-linked dominant vs. X-linked recessive disorders - Caused by genes located on the sex
chromosomes. The Y chromosome only contains a few dozen genes, so most sex-linked traits are
located on the X chromosome and are said to be X-linked
CORRECT ANSWERS
Autosomal Dominant - The defect is on the short arm of chromosome 4
Rare; most common is 1 in 500
1 copy causes the phenotype, Normal parent with a heterozygous parent, half of the children will be
normal, and the other half will express the disease. 50% chance of inheriting that disorder
mutation autosomal dominant - If a child is born with an autosomal dominant disease but there is no
family history, this is probably a new mutation.
However, the other germ cells are still normal and the chances of another child having the disease
again is the same as the general population
transmission autosomal dominant - Males and females are equally as likely to transmit the mutation
no skipping a generation (if neither parent has the mutation, none of the children will)
examples of autosomal dominant - Huntington's, Progressive dementia, Marfan's
Autosomal Recessive - individual must be homozygous to express the disease, carriers able to survive
normally
Both parents of affected individuals are heterozygous carriers
transmission autosomal recessive - Males and females are in equal proportion, Seen in siblings but
usually not their parents; ¼ of the offspring will be affected, Consanguinity-marriage between related
individuals = more likely to share the same recessive disease-causing alleles
Characterization of autosomal recessive - characterized by delayed age of onset, incomplete
penetrance, and variable expressivity
example autosomal recessive - Cystic fibrosis (1 in 2500 births), 1 in 25 white adults are carriers
X-linked dominant vs. X-linked recessive disorders - Caused by genes located on the sex
chromosomes. The Y chromosome only contains a few dozen genes, so most sex-linked traits are
located on the X chromosome and are said to be X-linked
