Genetics 1

Front 1

What are the five major types of genetic disorders?

Back 1

Single gene
mitochondrial
polygenic/multifactorial
chromosomal
somatic cell

Front 2

What is the 2 hit hypothesis?

Back 2

Cancer requires mutations in at least 2 genes. One hit may be inherited already in genes passed generation to generation. In this instance cancer will only require one hit.

Front 3

What is Mendels first law?

Back 3

For any given train, progeny inherit 2 alleles, one from each parent. Interaction between these alleles determines the trait.
Each parent randomly passes on one of these alleles to their offspring.

Front 4

Segment of DNA that encodes a specific protein

Back 4

Gene

Front 5

Physical region on a chromosome that has DNA that contains a specific gene

Back 5

Locus

Front 6

Alternative forms of a gene that differ in sequence

Back 6

Alleles

Front 7

What is Mendel's 2nd law?

Back 7

Law of Independent Assortment - alleles of genes at 2 different loci segregate independently from one another

Front 8

What is the exception to mendel's 2nd law?

Back 8

It is not true for genes that lie close to one another, genes can be inherited in blocks together.

Front 9

What is a chromosome?

Back 9

single molecules of DNA complexed with proteins that carry our genes. 46 total, 23 pairs.

Front 10

How many gene segregation events are needed in the human?

Back 10

Only 23, instead of thousands, thanks to chromosomes.

Front 11

Non gamete forming cells that are diploid

Back 11

Somatic cells

Front 12

Cells responsible for production of gametes

Back 12

germline cells

Front 13

Sperm and ova, haploid cells

Back 13

Gametes

Front 14

Fustion of 2 gametes, diploid

Back 14

Zygote

Front 15

2 copies of each chromosome, 46 in humans

Back 15

Diploid

Front 16

one copy pf each chromosome

Back 16

haploid

Front 17

paired chromosome during meisosi, one from each parent, that are not identical but only a few base pairs different

Back 17

Homologous chromosomes

Front 18

2 identical duplicated chromosomes joined by a centromere

Back 18

sister chromatids

Front 19

ploidy

Back 19

the number of copies of chromosomes - haploid, diploid, tetraploid

Front 20

Aneuploid

Back 20

Any number of chromosomes that is not an exact multple of haploid number, ie not a multiple of 23, like trisomy and monosomy

Front 21

Synapse occurs during what stage of meiosis

Back 21

prophase 1, forming bivalent tetrads

Front 22

at what stage do precursor oocytes mature to?

Back 22

metaphase I of meiosis

Front 23

When are recombinases expressed

Back 23

During synapsis of prophase I, catalyzing reciprocal exchange of parts of one chromosome for another, ie crossing over

Front 24

Histones

Back 24

chromosomes wrap DNA material around these for protection

Front 25

Histones further into these units

Back 25

Nucleosomes

Front 26

This DNA conformation is seen when cell is not dividing

Back 26

Extended conformation

Front 27

Each molecule is approximately 10 million base pairs

Back 27

DNA

Front 28

Two rings, A or G

Back 28

Purine

Front 29

One ring, T or C

Back 29

Pyramidine

Front 30

Why is DNA semi-conservative?

Back 30

Each resulting molecule from replication contains one new strand and one old strand

Front 31

What causes disease in genetic disorders?

Back 31

Changes in protein level/activity. Changes in DNA lead to changes in proteins.

Front 32

A region of DNA that specifies a trait

Back 32

Gene

Front 33

ONE GENE

Back 33

ONE PROTEIN*

*There are some genes that encode RNA that is not transcribed

Front 34

4 Basic Elements of a Gene

Back 34

Promoter, Coding Sequences, Intervening sequences, Structural regions

Front 35

Controls amount of mRNA produced

Back 35

Promoter

Front 36

Gets transcribed into proteins

Back 36

Coding sequence, Exon

Front 37

Gets spliced out of mRNA

Back 37

Intervening sequence, Intron

Front 38

Contains promoter and untranscribed 5' and 3' regions

Back 38

Structural region

Front 39

The site where RNA polymerase binds, thus determining trascriptional start site a specified number of bases from the TATA box

Back 39

Basal promoter

Front 40

Help control access to polymerase binding site

Back 40

Enhancers and Tissue Specific Elements

Front 41

In mRNA - it's U instead of what?

Back 41

T

Front 42

RNA polymerase can bind to promoter of any gene unless the site is occupied by a repressory

Back 42

Open conformation transcriptional control, as seen in prokaryotes

Front 43

In order for RNA polymerase to bind, activators must bind to enhancer site within the promoter and unwind DNA by phosphorylating or acetylating the histones

Back 43

Eukaryotic transcriptional control

Front 44

What three things must be done before mRNA is ready to go?

Back 44

Introns spliced out, polyadenylation, and capping.

Front 45

Mutations at this point are especially severe

Back 45

At splice junctions. It will allow intons to remains in mature RNA and disrupt all following processes.

Front 46

The translational start site

Back 46

AUG - encoding methionine

Front 47

3 bases read by ribosome at one time, producing amino acids to add to polypeptide chain

Back 47

Codon

Front 48

Codons are read by this substance that transfers a specific AA to it's "anti-codon" message

Back 48

tRNA

Front 49

How many binding sites for tRNA do ribosomes have?

Back 49

2

Front 50

Translation does not yield this

Back 50

An active protein. It must be folded and placed with other peptides to become fully active.

Front 51

Cleavage, lipidation, phosphorylation, glycosylation, and sulfation are all forms of this

Back 51

Post-translational modification of a protein