Intro to Genetics

Question 1

Karyotype

Answer 1

Entire set of 46 chromosomes in human 46XY

Question 2

Lyonization

Answer 2

Another term for X-inactivation

Question 3

Mosaicism

Answer 3

Two or more populations of cells with different genotypes in an individual. The ratio of normal:abnormal cells determines severity of the disease

Question 4

mtDNA

Answer 4

Encodes rRNA, tRNA and 13 proteins
No introns
Maternally inherited
Mutation rate is 10x higher than nDNA (no repair)

Question 5

LHON- leber heredity optic neuropathy

Answer 5

Due to mutation in genes that encode subunits of complex I

Question 6

MERRF myoclonic epilepsy and ragged red fibers

Answer 6

Mutation in the gene for tRNA of for lysine

Question 7

MELAS mitochondrial encephalopathy, lactic acidosis and stroke-like activity

Answer 7

Mutation in tRNA gene for leucine

Question 8

What happens during prophase

Answer 8

Chromosomes condense, mitotic spindle forms

Question 9

What two ways does meiosis create genetic diversity

Answer 9

Random segregation of homologs

Cross-over/homologous recombination

Question 10

Polyploidy vs aneuploidy

Answer 10

Polyploidy- cells contain a complete set of extra chromosomes
Aneuploidy- cells contain a missing or additional individual chromosome

Question 11

Nondisjunction

Answer 11

Uneven separating of chromosomes during meiosis. May result in aneuploidy