Genetics test 2

Question 1

Mutation

Answer 1

a change in DNA (genetic material)

Question 2

Mutagen

Answer 2

agent that raises rate of mutation above spontaneous rate

Question 3

Point Mutation

Answer 3

substitution of one base pair for another

Question 4

Frameshift mutation

Answer 4

insertion or deletion of a base pair

Question 5

Hereditary

Answer 5

transmissible from cell to cell

Question 6

Congenital

Answer 6

present at birth

Question 7

Phenocopy

Answer 7

condition resulting from environmental factors that mimics a genetic condition

Question 8

Carcinogen

Answer 8

physical or chemical agent that causes cancer

Question 9

Teratogen

Answer 9

physical or chemical agent that causes birth defects

Question 10

Plolyploidy

Answer 10

extra sets of chromosomes

Question 11

Aneuploidy

Answer 11

an extra or missing chromosome, trisomy

Question 12

Down syndrome

Answer 12

3 copies of chromosome 21, trisomy 21

Question 13

Cri-du-chat

Answer 13

missing part of short arm of chromosome 5

Question 14

William Syndrome

Answer 14

Deletion of 26 genes on chromosome 7

Question 15

Reciprocal Translocation

Answer 15

2 nonhomologous chromosomes exchange part of their arms

Question 16

Familial Down Syndrome

Answer 16

Robertsonian Translocation between chromosome 21 and 14

Question 17

Gene

Answer 17

Segment of DNA

Question 18

Allele

Answer 18

Form of a gene

Question 19

Locus

Answer 19

position of gene on chromosome

Question 20

Law of independent Assortment

Answer 20

The migration of alleles of one gene into the gametes does not influence the migration of alleles at a second gene

Question 21

Law of Random Segregation

Answer 21

Heterozygous individuals produce two gamete types frequently

Question 22

Penetrance

Answer 22

the per cent individuals which show the phenotype that is expected for a particular genotype

Question 23

Expressivity

Answer 23

the variation in severity for a particular genetic trait

Question 24

Pleiotropic effects

Answer 24

one gene has an effect on several aspects of an individuals phenotype

Question 25

Epistasis

Answer 25

One trait is controlled by 2 or more genes such that the gene products interact to determine the phenotype for 1 trait

Question 26

Osteogenesis imperfecta

Answer 26

Dominant gene affects production of collagen in bones, short stature and weak muscles

Question 27

Nail-Patella Syndrome

Answer 27

Abnormal development of fingers and toenails, dominant allele

Question 28

Marfans Syndrome

Answer 28

long fingers and toes, heart valve problems, dominant allele

Question 29

Primary Sex ratio

Answer 29

ratio of male:female at conception

Question 30

Secondary sex ratio

Answer 30

ratio of male:female at birth

Question 31

Tertiary sex ratio

Answer 31

ratio of male:female any time after birth

Question 32

Hemizygous

Answer 32

individual only has 1 copy of the genetic locus

Question 33

Homozygous

Answer 33

both alleles for the gene are the same

Question 34

Heterozygous

Answer 34

the two alleles for the gene differ

Question 35

Holandric

Answer 35

transmission of gene on Y chromosome

Question 36

Duchenee Muschualr Dystophy

Answer 36

Defective dysrophin protein, muscle degeneration, paralysis and death, holandric

Question 37

Hemophilia

Answer 37

Recessive, X-lnked, clotting factor

Question 38

Ovotestestes

Answer 38

both ovaries and testes

Question 39

SRY Gene

Answer 39

Sex determining region of the Y, codes for testis determining factor which triggers undifferentiated gonadal tissues to form testis

Question 40

Androgen Insensitivity

Answer 40

xy individual that looks like a female

Question 41

Guevedoces

Answer 41

Penis at age 12, ambiguous sex at birth

Question 42

Congenital Adrenal Hyperplasia

Answer 42

Missing enzyme causes overproduction of male formones

Question 43

Turner Syndorme

Answer 43

One x chromosome, no other chromosome

Question 44

Klinefelter Syndrome

Answer 44

XXY

Question 45

Barr body

Answer 45

Inactivated x

Question 46

Fragile X Syndrome

Answer 46

extra copies of trinucleotide CGG on x chromosome

Question 47

Rett Syndrome

Answer 47

X linked dominant, mutant MECP2 gene that regulates other genes, autistic type symptomes

Question 48

Amelogenesis imperfecta

Answer 48

abnormal tooth enamel, x linked dominant

Question 49

Cogenital Generalized Hypertrichosis

Answer 49

werewolf syndrome, x linked dominant

Question 50

Congenital Effect

Answer 50

disease present at birth

Question 51

Radiation measured in?

Answer 51

Sieverts, average person recieves 6.2 mSv a year

Question 52

Ames test

Answer 52

mixes a chemical, liver extract and bacteria to determine if the chemical causes mutations

Question 53

Williams Syndrome

Answer 53

Due to a deletion