GENETICS EXAM 1 KEY CONCEPTS AND
PRACTICE QUESTIONS
◉ proband?
Answer: affected person first identified in family
◉ consultand?
Answer: person seeking genetic evaluation
◉ sibs/sibship?
Answer: brothers and sisters
◉ first degree relatives?
Answer: parents, siblings, children
◉ second degree relatives?
Answer: grandparents, grandchildren, aunts/uncles,
nieces/nephews, half-sibs
◉ third degree relatives?
Answer: first cousins
,◉ consanguineous?
Answer: partners sharing a common ancestor
◉ which side goes on pedigree?
Answer: left = father; right = mother
◉ arrow on pedigree points to?
Answer: proband
◉ chromosome?
Answer: DNA organized into rod-shaped structures
◉ how many genes in body?
Answer: ~25,000
◉ genes?
Answer: functional units of heredity
◉ how long is DNA?
Answer: ~6 feet
, ◉ when are chromosomes best seen?
Answer: prophase & metaphase
◉ what part of cell has its own genome?
Answer: mitochondria
◉ how many genes in mitochondrial genome?
Answer: 37
◉ mitochondrial genome encodes?
Answer: proteins for oxidative phosphorylation
◉ mitochondrial DNA inheritance?
Answer: maternal
◉ locus?
Answer: specific DNA position on a chromosome
◉ alleles?
Answer: alternative versions of a gene
◉ DNA dosage?
PRACTICE QUESTIONS
◉ proband?
Answer: affected person first identified in family
◉ consultand?
Answer: person seeking genetic evaluation
◉ sibs/sibship?
Answer: brothers and sisters
◉ first degree relatives?
Answer: parents, siblings, children
◉ second degree relatives?
Answer: grandparents, grandchildren, aunts/uncles,
nieces/nephews, half-sibs
◉ third degree relatives?
Answer: first cousins
,◉ consanguineous?
Answer: partners sharing a common ancestor
◉ which side goes on pedigree?
Answer: left = father; right = mother
◉ arrow on pedigree points to?
Answer: proband
◉ chromosome?
Answer: DNA organized into rod-shaped structures
◉ how many genes in body?
Answer: ~25,000
◉ genes?
Answer: functional units of heredity
◉ how long is DNA?
Answer: ~6 feet
, ◉ when are chromosomes best seen?
Answer: prophase & metaphase
◉ what part of cell has its own genome?
Answer: mitochondria
◉ how many genes in mitochondrial genome?
Answer: 37
◉ mitochondrial genome encodes?
Answer: proteins for oxidative phosphorylation
◉ mitochondrial DNA inheritance?
Answer: maternal
◉ locus?
Answer: specific DNA position on a chromosome
◉ alleles?
Answer: alternative versions of a gene
◉ DNA dosage?