genetic mutations

Question 1

what is a gene

Answer 1

fundamental unit of info storage
blueprints of protein synthesis
strands of DNA

Question 2

what are chromosomes made of

Answer 2

genes

Question 3

what is DNA

Answer 3

where genetic info is stored

genes are composed of DNA

Question 4

what are the 2 purines

Answer 4

adenine and guanine

Question 5

what are the 2 pyridmidines

Answer 5

thymine and cytosine

Question 6

what goes with adenine

Answer 6

thymine

Question 7

what goes with guanine

Answer 7

cytosine

Question 8

how many chromosomes are in somatic cells

Answer 8

46

Question 9

how many chromosomes are in gametes

Answer 9

23

Question 10

what are somatic cells

Answer 10

non sex cells

Question 11

what are gametes

Answer 11

sex cells (sperm or ova)

Question 12

what is a genetic mutation

Answer 12

an error in duplication of DNA that is either inherited or obtained

Question 13

what are the two types of single gene disorder

Answer 13

basepair substitution

frameshift mutation

Question 14

what is basepair substitution

Answer 14

a different pair is substituted for the normal pair in the DNA

Question 15

what is frameshift mutation

Answer 15

either insertion or deletion of 1+ base pairs in the DNA

Question 16

what are the two types of frameshift mutation

Answer 16

frameshift mutation with one base pair DELETED

frameshift mutation with one base pair INSERTED

Question 17

what is a genotype

Answer 17

describes the exact genetic constitution of a person (ALL DNA)

Question 18

what is a phenotype

Answer 18

the measurable EXPRESSION of genes in a person (i can see that i have blonde hair)

Question 19

how are chroms found in somatic cells

Answer 19

they are paired with matching genes

Question 20

what are alleles

Answer 20

alternative forms of a gene at a given place on the pair of chroms
two alleles per gene- one from each parrent

Question 21

what is homozygous

Answer 21

two alleles are identical for the same trait(brown, brown)

Question 22

what is heterozygous

Answer 22

two differing alleles for the same trait (brown, blonde)

Question 23

what is an unaffected carrier

Answer 23

recessive trait can be hidden by dominant (Tt)

Question 24

what are autosomal dominant and autosomal recessive disorders

Answer 24

non sex linked disorders

Question 25

what is autosomal dominant

Answer 25

abnormal allele is dominant

Question 26

what are the characteristics of autosomal dominant

Answer 26

1. males=Females 2. no skipping of generations 3. affected heterozygous individuals have a 50% change to transmit trait to each ofspring

Question 27

what is autosomal recessive

Answer 27

abnormal allele is recessive and need 2 recessive traits in order to be expressed (Tt can be unaffected carriers)

Question 28

what are the characteristics of autosomal recessive

Answer 28

1. males=females 2. usually skips a generation 3. both parents of an affected child are carriers

Question 29

of the 23 pairs of chromosomes that make up the karyotype of an individual...

Answer 29

22 are autosomes and one pair is sex chromosomes

Question 30

females inherit how many X chroms

Answer 30

two

Question 31

females inherit how many x chroms

Answer 31

one from the mother

Question 32

what are the characteristics of x linked dominant

Answer 32

1. males=females 2, on males, traits either dominant or recessive are expressed as phenotype 3. usually affective dads have unaffected sons but affected daughters (because sons dont get an x from their dads) 4. Hetero moms have a 50% chance of transmitting the trait to each daughter or son

Question 33

if a dad is mutated, his son...

Answer 33

wont be affected

Question 34

what are the characteristiscs of x linked rececssive

Answer 34

1. males > females (females have another X to mask) 2. affected dads cannot transmit to sons but do to all daughters 3. sons of mom carriers have 50% of being affected 4. Daughters of mom carriers have 50% of being affected

Question 35

what is nondsjunction

Answer 35

failure of one + pairs of chroms to separate and seg during meotic division and both chroms end up in one daughter cell getting all of them while the other daughter cell gets none

Question 36

what are chromosome disorders

Answer 36

loss or gain of chrom sets may be either numeric or structural may affect either autosomes or sex chroms