Genetics

Question 1

Genes

Answer 1

individual units of heredity that correspond to a particular segment of DNA, whose unique sequence (A,T,C,G) codes for a particular trait

Question 2

Chromosomes

Answer 2

-structures made up of DNA wound around proteins called histones
-one set of chromosomes from mother, one from father
-22 pairs non-sex, 1 pair sex

Question 3

Aneuploidy

Answer 3

atypical number of chromosomes

Question 4

Down syndrome

Answer 4

trisomy 21

Question 5

klinefelter’s syndrome

Answer 5

XXY

Question 6

turner’s syndrome

Answer 6

X

Question 7

Allele

Answer 7

version of the gene

Question 8

Genome

Answer 8

-entire genetic material
-1 base pair is like C-G

Question 9

haploid genome

Answer 9

one set of chromosomes

Question 10

Where is genetic information stored?

Answer 10

The nuclei of most of our cells in our body (not red blood cell)

Question 11

Genotype

Answer 11

refers to the specific allele combination for a gene

Question 12

Phenotype

Answer 12

outward expression of the genotype

Question 13

Mendel’s law of segregation

Answer 13

A parent contains two alleles of a gene but randomly contributes just one allele of the gene to its offspring. Result: Offspring inherits the gene from mon and one from dad

Question 14

Punnett square

Answer 14

determines potential genotypes of offspring

Question 15

Homozygous dominant

Answer 15

ex: PP

Question 16

Heterozygous

Answer 16

ex: Pp

Question 17

Homozygous recessive

Answer 17

pp

Question 18

Dominant allele

Answer 18

the one that makes a working protein

Question 19

Recessive allele

Answer 19

one that makes a broken or no protein

Question 20

Alkaptonuria (AKU)

Answer 20

-recessive disease
-tissues accumulate black pigment
-build up: homogentisic acid (HGA)
-urine turns black upon oxidation

Question 21

What do defects in pathways lead to?

Answer 21

lead to different phenotypes

Question 22

Phenylketonuria (PKU) symptoms

Answer 22

-builds up phenylalanine
-born with minimal or no symptoms, but if left untreated can lead to permanent intellectual disability
-build-up damages nervous system, leading to symptoms
-early treatment (low phenylalanine diet)

Question 23

Genetic screen search for

Answer 23

-random mutagenesis in a model organism
-mutants that exhibit a loss of function phenotype

Question 24

How to determine gene identity of a mutant?

Answer 24

-complementation tests
-gene mapping

Question 25

Prototroph (wild type)

Answer 25

can synthesize what it needs (amino acids, nitrogenous bases, or vitamins)

Question 26

Auxotroph (mutant)

Answer 26

cannot synthesize what it needs sue to mutated gene in an essential metabolic enzyme; these require addition of a particular nutrient

Question 27

Conditional mutants

Answer 27

under one condition (permissive condition) they exhibit wild-type phenotype (grow/survive in this case) and under another condition (restrictive conditions) they show their mutant phenotype (die in this case)

Question 28

Restrictive condition

Answer 28

minimal media
requires organism to synthesize metabolites
wild type prototrophs: growth
Mutant auxotrophs: no growth

Question 29

Permissive condition

Answer 29

-rich media
-does not require the organism to synthesize metabolites
-wild type prototrophs: growth
-mutant auxotrophs: growth