Genetics

Question 0

1) We have DNA, we can copy our DNA to make more DNA - we do this when a ___ ___.
*We can also make a copy as ___ to do ___ ___. The ___ goes out > the ribosome grabs onto it and makes protein.
~We have the protein, the protein does whatever it does and at some point the protein will be thrown away and we will make more of it if we need it.

Answer 0

1) Cell divides
2) mRNA
protein synthesis
mRNA

Question 1

*We have ___ somatic pairs of Chromosomes - thus ___.
*Then we usually have 2 sets of chromosomes.
~Most people will have either ___ or ___

Answer 1

*22
*44
~XX or XY

Question 2

Replication of DNA:

The two chains of the ___ ___ separate, and each chain serves as the template for a new complementary chain.

Answer 2

Double helix

Question 3

Our DNA is a bunch of nucleotides > we have ___, ___, ___, ___ = 4 possible nucleotides and we have strings of these things.

Answer 3

A,C,G,T

Question 4

*We have ___ ___ of roughly ___ ___ base pairs. These code for individual ___ ___ that are put into proteins.
~So if we change one of these base pairs we could change one of the amino acids in a protein > which could change the protein > which could change the function of the protein.

Answer 4

• 2 sets
• 3 billion
• amino acids

Question 5

*___ ___ will zip through here and make our mRNA, which will then go out and our ___ will grab onto it - big part, little part will bind onto it > will go down 3 base pairs at a time, putting on one ___ ___. Moving to the next 3 and putting on another. So each codon (each 3) codes for an ___ ___. ___ is looking for a specific codon and then its going to put a specific amino acid onto our growing peptide chain.

Answer 5

• RNA polymerase
• ribosome
• amino acid
• amino acid
• Anticodon

Question 6

So each codon codes for a specific amino acid and we can either do this as ___ ___ = in which case we will have a protein in the cytoplasm. OR we can do this bound to the ___ ___ in which case we will have a protein that is going to be used either in the plasma membrane, or released, or put in another organelle etc.

Answer 6

• Free ribosomes

- Rough ER

Question 7

We can make about 60,000 proteins, but we only have ~25,000 genes thus there is lots of ___ ___. So one gene can make multiple different proteins depending on which one it needs to make.

Answer 7

Variant Splicing

Question 8

1) ___ ___ whose proteins remain in the cytoplasm.
2) ___ ___ showing protein synthesis & segregation into the Rough ER (protein is used either in the plasma membrane or released to be used elsewhere).

Answer 8

1) Free polyribosomes

2) Bound polyribosomes

Question 9

___ = This occurs when we replace one nucleotide with somebody else. At most we are going to have one different amino acid in the entire protein. So this could result in a change that is not really a change. Maybe we change one amino acid to another amino acid that is very similar, protein is still going to work. Or it can make a protein that works better, or worse, or one that works a lot worse. BUT we are only going to have one amino acid difference.

Answer 9

Single Nucleotide Polymorphism (SNP)

Question 10

1) ___ = A base pair substitution is like mis-marking one answer on your scantron. At worst you get one question wrong.
2) ___ = On test - would be like you skipped one question and everything got shifted off by one. Now you are going to screw up A LOT of questions. The protein that comes out as a result of this is going to be completely different. These are almost always going to result in proteins that are WAY OFF!

Answer 10

1) Single nucleotide polymorphism

2) Frameshift mutation

Question 11

Base pair substitution results in?

Answer 11

Single nucleotide polymorphism (SNP)

Question 12

Results in one base pair deleted or one base pair inserted?

Answer 12

Frameshift Mutation

Question 13

Almost all genetic mutations are?

Answer 13

Single nucleotide polymorphisms (SNP)

Question 14

1) We might get improvements from ___.
2) ___ are going to be disasters.
3) If we insert an extra base pair > we are going to have the same thing > we are going to have a ___ > garbage from here on out.
4) Almost all of our genetic variants that are meaningful aka result in different proteins are ___.

Answer 14

1) Single nucleotide polymorphisms (SNP)
2) Frameshift mutations
3) Frameshift mutation
4) Single nucleotide polymorphisms (SNP)

Question 15

Genetic Disorders - Single Gene Disorders:

There are 3 types, what are they?

Answer 15

Dominant
Recessive
X-Linked

Question 16

Single Gene Disorders:
X-Linked can be ___ or ___
*____ X-linked disorders are rare, and few known diseases

Answer 16

Recessive or Dominant

*Dominant X-Linked disorders

Question 17

Genetic Disorders - Single Gene Disorders:
___ = one error is bad enough to cause a problem
*How many copies of almost every gene do you have? At least 2, one from mom and one from dad. Some important ones we have multiple copies from both parents. Ones on sex chromosomes we might only have one copy. But if you have 2 copies and one of them is bad and it is bad enough to cause a problem this is a ___.

Answer 17

Dominant disorder

Dominant disorder

Question 18

Genetic Disorders - Single Gene Disorders:
1) ___ = 2 copies of a gene and both are bad to cause a problem.
2) ___ = a problem with a gene on the X chromosome.
~The X chromosome is special because it determines sex.

Answer 18

1) Recessive

2) X-Linked

Question 19

Genetic Disorders - Single Gene Disorders: ***X-Linked

1) ___ = all of your X’s have a defective gene (male only has one X, which means if you have one defective X you will be defective). Thus males more affected by this than females. If you are a female you will need both of your X’s to be defective.
2) ___ = only need one bad X, no matter how many X’s you have. Just know that these diseases exist, but there are very few of them because they get bred out of the gene pool very quickly. Basically the males don’t survive development and the females come out with some serious disease. Very RARE!

Answer 19

1) X-linked Recessive

2) X-linked Dominant

Question 20

Genetic Disorders:

These are almost always going to affect males? Rare for females.

Answer 20

X-linked recessive diseases

Question 21

Genetic Disorders:

___ = Nondisjunction (usually Trisomy).

Answer 21

Aneuploidy

Question 22

Genetic Disorders:
___ - meaning not good, number of things.
This is an extra or missing chromosome. Your supposed to have 2 copies of something > Instead one chromosome either has 3 copies or 1 copy of something.
**Turns out you can survive better with more genetic material than with less genetic material.
*Can survive better with ___ than with ___.
(Trisomies = 3 copies of one particular chromosome)

Answer 22

• Aneuploidy
• Trisomies
• Monosomies

Question 23

Genetic Disorders:
The only monosomy that survives?
These are females that only have one X, they are almost normal.

Answer 23

Turner (45:X)

Question 24

Genetic Disorders:

• We can have extra X’s and extra Y’s and they don’t really seem to be much of a problem with the exception of ____ = males with extra X’s (these are a bit of a problem).
• Females with extra Xs not really a problem (XXX females pretty close to normal).
• Males with extra Ys are also not really a problem (just supposed to make them big, dumb and aggressive). XYY males also pretty close to normal (can have as many Ys as you want if your a male, doesn’t seem to make much difference).

Answer 24

Klinefelter (47:XXY)

Question 25

Location in the genome?

Answer 25

Locus

Question 26

One member of a pair of genes?

Answer 26

Allele

will have an allele from mom & an allele from dad

Question 27

The genetic material?

Answer 27

Genotype

Question 28

The physical manifestation?

Answer 28

Phenotype

Question 29

The chance that phenotype follows genotype?

Answer 29

Penetrance

Question 30

Alleles on a single chromosome?

Answer 30

Haplotype
*So you have moms Haplotype and you have dads Haplotype
Ex: The whole Chromosome one from mom and the whole chromosome one from dad

Question 31

Gene rearrangement between homologous chromosomes?

Answer 31

Recombination/crossover

Question 32

1) SNP?

2) If you have a gene you will present the characteristic?

Answer 32

1) Single nucleotide polymorphism

2) Penetrance

Question 33

Structure of Chromosomes:
The ___ - the telomeres would be at the ends.
1) Short arm = ___
2) Long arm = ___
*If you see Genetic diseases they will typically be referred to as 5P….
The 5 refers to the chromosome, the P refers to the P arm and the numbers that come after it specify the band that that particular defective gene is found in.

Not really worried about this - no point in memorizing.

Answer 33

Centromere

1) P
2) Q

Question 34

Structure of Chromosome:

1) ___ chromosome = when the centromere is close to the middle
2) ___ chromosome = when the centromere is set off from the middle
3) ___ chromosome = when the centromere is at or very near the end

Answer 34

1) Metacentric
2) Submetacentric
3) Acrocentric

Question 35

Structure of Chromosomes:
During ___ the centromere divides and chromosomes move to opposite poles of cell. At the time of ___ ___, the chromatids are designated chromosomes.

Answer 35

• Mitosis

- Centromere division

Question 36

This causes aneuploidy when chromosomes or sister chromatids fail to divide properly?

Answer 36

Nondisjunction

Question 37

As women get older they have an increased rate of ___. For males this does not occur.

• *Females did the first phase while in utero. So females have eggs sitting here that are roughly their age plus another lets say 7 months. So all the enzymes in there/all the proteins that are necessary for disjunction are getting older and older and older.
• If your male how old is the primary spermatocyte at this point? A couple hours old - all these enzymes are therefore brand new no matter how old the man is.

Answer 37

Nondisjunction

Question 38

The most common of the somatic trisomies?

*Consists of ___ chromosomes

Answer 38

Trisomy 21 - Down Syndrome

*47

Question 39

Down syndrome increases with ???

Answer 39

Maternal age

Question 40

In this genetic disease a sex chromosome is missing, and the person’s chromosomes are ??
*Characteristic signs are short stature, female genitalia, webbed neck, shield-like chest with underdeveloped breasts and widely spaced nipples, and imperfectly developed ovaries.

Answer 40

Turner Syndrome, 45X

Question 41

This syndrome results from the presence of 2 or more X chromosomes with one Y chromosome?
*Characteristics include small testes, some development of the breasts, sparse body hair, and long limbs.

Answer 41

Klinefelter syndrome, 47 XXY

Question 42

Both Klinefelters and Turners have pretty close to normal intelligence. In both the biggest problem they are going to have is?

Answer 42

Infertility

Question 43

Crossover occurs when we are in Prophase I and are doing 2 rounds of ___.

Answer 43

Meiosis

Question 44

Abnormalities of Chromosome Structure:

The generation of duplication and deletion through ???

Answer 44

Unequal crossing over

Question 45

Issues with ___ = We generally don’t like losing material and if we gain too much material this can be a problem.
So little bit of gain in material not a problem, lot of gain in material big problem. Loss of material = big problem.

Answer 45

Cross over

Question 46

In this type of Chromosome Translocation Crossover btw ___ ___ would result in 2 pesky problems, they are…
*Having sperm or eggs that are just not quite 100% functional
*Increased rates of cancer due to issues with translocation problems
(otherwise the kid would be perfectly normal)

Answer 46

Non-homologous Chromosomes

Question 47

Crossover btw Non-homologous Chromosomes - Consequences of translocation in gametes = unbalanced gametes result in zygotes that are partially ___ and partially ___ and consequently develop abnormally.

Answer 47

Trisomic

Monosomic

Question 48

Name the 6 Dominant Single Gene Disorders?

only one gene needs to be defective

Answer 48

1) Familial Hypercholesterolemia
2) Huntington Disease
3) Achondroplasia
4) Marfan
5) Retinoblastoma
6) Li-Fraumeni

Question 49

Dominant Single Gene Disorders:

1) Causes Dwarfism = its what causes dwarfs to have short arms and short legs but a normal sized torso. As opposed to pituitary dwarfs who are perfectly proportioned.
2) Causes people to have long arms and long legs and be really tall. Unlike pituitary gigantism which causes them to be perfectly proportioned.

Answer 49

1) Achondroplasia

2) Marfan

Question 50

Dominant Single Gene Disorders:

Both of these give rise to lots of cancers?

Answer 50

Retinoblastoma

Li-Fraumeni

Question 51

Name the 5 Recessive Single Gene Disorders?

both genes have to be defective

Answer 51

1) Sickle cell anemia
2) Cystic fibrosis
3) Lysosomal storage diseases (Tay-Sachs, Gaucher, Niemann-Pick)
4) Phenylketouria
5) Glycogen storage diseases

Question 52

Name the 2 X-linked recessive (all X’s must be defective) single gene disorders?

Answer 52

1) Duchenne muscular dystrophy

2) Hemophilia A (factor VIII) & B (factor IX)

Question 53

Pedigree:

1) Circle is for ___
2) Squares are for ___
3) Solid color is ___
4) Half colored is for ___

Answer 53

1) Female
2) Male
3) Affected individual
4) Carrier

Question 54

For dominant diseases this is usually rare? Typically incompatible with life.

Answer 54

Homozygous affected (DD)

Question 55

Symptoms of ____ = Short limbs relative to trunk length, prominent forehead, low nasal root, redundant skin folds in the arms and legs.

Answer 55

Achondroplasia

Question 56

Partial mole (triploid) - These people have a whole extra set of chromosomes 69 or possibly 68 chromosomes instead of 46. These people do not survive?

Answer 56

Polyploidy

Question 57

Errors with Cross Over:

This occurs when a chromosome segment is lost?

Answer 57

Deletion