human genetics

Question 1

How many pairs of autosomal pairs do we have?

Answer 1

22 pairs

Question 2

How many pairs of sex chromosomes do we have?

Answer 2

1 pair

Question 3

What are haploid cells and how many do we have?

Answer 3

Haploid cells are one pair and we have 1; gametes

Question 4

What are our gametes?

Answer 4

sperm and egg

Question 5

How many pairs of cells do gorillas, chimps, and bonobos have?

Answer 5

24 pairs

Question 6

what chromosome of ours is different from a chimp?

Answer 6

chromosome #2 fused together

Question 7

what is DNA?

Answer 7

deoxyribonucleic acid is a double helix genetic code
there are four nucleotides; A bonds to T; G bonds to C
2 complementary strands contain the same information

Question 8

why is cell division essential?

Answer 8

growth, replacement of tissue, repair

Question 9

what happens before cell division?

Answer 9

DNA is copied

Question 10

what percentage of DNA codes for protein (polypeptides)?

Answer 10

2%

Question 11

what percentage of DNA does not code?

Answer 11

98%

Question 12

how many base pairs in gamete?

Answer 12

3 billion

Question 13

how many base pairs in diploid cell?

Answer 13

6 billion

Question 14

how does information flow in the cell?

Answer 14

1. DNA replication: copying the genetic info
2. transcription: info in DNA transferred to mobile messenger RNA
3. Translation into a protein: messenger RNA and transfer RNA work together to take the info you inherited to make into a protein

Question 15

how does transcription work?

Answer 15

code is transferred to a messenger RNA molecule
single stranded molecule takes info outside the nucleus

Question 16

how does translation work

Answer 16

mRNA takes the DNA’s code to the ribosome (place to make protein)
tRNA bonds to an amino acid
code of DNA is directly transferred to make a particular protein

Question 17

what are genes?

Answer 17

sequence of nucleotides that code for a protein at a location on a chromosome

Question 18

what are homozygous dominant genes?

Answer 18

AA

Question 19

what are heterozygotes?

Answer 19

Aa

Question 20

what are homozygous recessive genes?

Answer 20

aa

Question 21

how many alleles can an individual have for a gene?

Answer 21

1 (most) or 2 types

Question 22

how many genes, alleles, and loci do we have?

Answer 22

one gene, 2 alleles, and one locus (location on a chromosome)

Question 23

T or F: single genes create phenotypes?

Answer 23

F: single gene differences do

Question 24

how many copies of a recessive gene do you need to get a disease?

Answer 24

2 copies

Question 25

why do fathers pass of 4x more mutations for childhood diseases than mothers?

Answer 25

males make sperm throughout life and they accumulate mutations by chance females are born with full complement of eggs

Question 26

what are autosomal dominant diseases?

Answer 26

one copy of the gene causes the disorder you have a 50% chance of inheriting the disease

Question 27

why is huntington's disease so deadly?

Answer 27

hidden from NS since the onset age is 40-50 after having passed it on

Question 28

what is Rh blood type?

Answer 28

refers to the antigens on red blood cells

Question 29

what is the most important antigen?

Answer 29

antigen D; gives you the positive and lacking gives you the negative

Question 30

what does Rh positive mean?

Answer 30

you have the antigen

Question 31

is the recessive trait positive or negative?

Answer 31

negative

Question 32

what is hemolytic disease of fetus?

Answer 32

if mom is RH- and fetus is Rh+, during birth mom can develop antibodies to the baby's blood and they attack the baby's blood

Question 33

whats a prevention to hemolytic disease?

Answer 33

inject mom with a drug to prevent her antibodies from reacting to baby's antigens

Question 34

what is phenylketonuria (PKU)?

Answer 34

can't metabolise amino acid phenylalanine which can lead to intellectual disorders it is autosomal recessive buildup of phenylalanine

Question 35

what is the treatment for PKU?

Answer 35

diet low is phenylalanine

Question 36

why does urine smell like asparagus?

Answer 36

asparagusic acid (precursor to sulfur compounds in the urine due to a single nucleotide 40% of people can smell it (different in chromosome 1)

Question 37

what traits did we used to think were caused by a single gene?

Answer 37

eye and hair colour

Question 38

can 2 blue-eyed parents have brown-eyed children?

Answer 38

yes

Question 39

what single gene has 3 types?

Answer 39

blood type

Question 40

how many types of blood type genes

Answer 40

3 types: A, B, O 6 genotypes AA BB AB AO BO OO

Question 41

what are polygenic traits?

Answer 41

traits controlled by more than 2 genes if they follow a bell curve smoother the curve the more genes involved

Question 42

what does nature and nurture mean?

Answer 42

nature+nurture+nature*nurture

Question 43

what is an example of epigenetic effects?

Answer 43

methyl groups tagging your DNA to repress of activate its expression

Question 44

how long do epigenetic markers last?

Answer 44

a lifetime and they're typically erased during gamete production

Question 45

are epigenetic markers passed on?

Answer 45

yes. Lamarckian inheritance

Question 46

where does raw material for evolution come from?

Answer 46

mutation

Question 47

what is the cause of a single nucleotide?

Answer 47

errors during replication

Question 48

what regions can be neutral or negative?

Answer 48

non-coding regions

Question 49

are coding-regions more likely to be positive, negative, or neutral?

Answer 49

negative

Question 50

what are chromosomal mutations?

Answer 50

insertion or deletion of segments during replication

Question 51

what does down's syndrome (trisomy 21) effect?

Answer 51

chromosome 21 failure of chromosome 21 to separate properly during meiosis

Question 52

how is down's syndrome detected and why does it happen?

Answer 52

it is random increases with mom's age detected by amniocentesis 5-10% cases caused by sperm from older males

Question 53

what is meiosis?

Answer 53

cell division that produces gametes 2n to n

Question 54

why are siblings not identical?

Answer 54

sexual recombination you can make 2 to the 23 genetically different gametes environmental effects fertilization (mixing genes) crossing over