Genetics, Race, and your Health

Question 1

Race contributes to your genetic make up. True or false?

Answer 1

False!!!! According to the Census Bureau.gov race is a sociological classification of a person’s self-identification with one or more social groups.

There is no genetics in race. Race is an inaccurate picture of human variation.

Question 2

The variation within all cultures is encompassed in the main variation that you see where?

Answer 2

in the African diaspora

Question 3

Genetic variation between populations is minimal. True or false?

Answer 3

TRRUUEEE.

Genetic variation is between 0.01 to 0.05%

Question 4

Genetic variation between populations is minimal. True or false?

Answer 4

TRRUUEEE.

Genetic variation is between 0.01 to 0.05%. The genetic makeup of everyone is 99.5% the SAME.

Question 5

All cells in your body has the same genes. True or false?

Answer 5

TRRUUUEEEE!!!!

It’s all about the turning on and off of genes that give rise to “different” cells in the body.

Question 6

All cells in your body has the same genes. True or false?

Answer 6

TRRUUUEEEE!!!!

It’s all about the turning on and off of genes that give rise to “different” cells in the body.

The time and place and combination of active genes makes up for difference in human variation.

Question 7

What are the two forms of DNA that are uniquely inherited?

Answer 7

mitochondrial DNA that you inherit from your mother

Y chromosome comes from your father

Question 8

What is genetic admixture?

Answer 8

Genetic admixture occurs when two or more previously isolated populations begin interbreeding. Admixture results in the introduction of new genetic lineages into a population.

Question 9

How can skin reflectance lead to evolution (differences in fitness and adaptability in different environments)?

Answer 9

Pregnant women who are exposed to large amounts of UV can have their folic acid broken down thus indirectly affecting the baby (the baby dies). Thus a mutation for darker skin comes and increases fitness for having a baby.

However UV light is used for the activation of vitamin D.

Question 10

What is fitness?

Answer 10

Fitness is the quantitative representation of natural and sexual selection within evolutionary biology. It can be defined either with respect to a genotype or to a phenotype in a given environment.

In either case, it describes individual reproductive success and is equal to the average contribution to the gene pool of the next generation that is made by individuals of the specified genotype or phenotype.

Natural selection of organisms is based upon their fitness.

Question 11

The skin and hair is determined by the regulation of the amount of pigment that you produce. What is this pigment?

Answer 11

melanin which are produced in melanosomes

Question 12

We all have the same number of melanocytes but what makes us have different complexions?

Answer 12

the body site distribution or density of the melanocyte cells

Question 13

We all have the same number of melanocytes but what makes us have different complexions?

Answer 13

the size of the melanocytes and the body site distribution or density of the melanocytes is what causes differences in complexion

The process of making melanocytes and making melanosomes is genetic.

Question 14

What is inheritability?

Answer 14

what are the genetic differences within a population of individuals that determines how they may look

Question 15

What is inheritability?

Answer 15

what are the genetic differences within a population of individuals that determines how they may look; we want to be able to predict what people’s children will look like based on genetic and environmental factors

Question 16

When there is a genetic sweep where only one gene determines one phenotype, what will the children of two parents in this population look like?

Answer 16

JUST LIKE THE PARENTS!!!

because there is no variability

Question 17

How does diet affect skin pigmentation?

Answer 17

Tyrosine is the amino acid precursor to making melanin. Tyrosine is an essential amino acid and thus cannot be made in the body. We have to get tyrosine from diet which is found in meat.

Question 18

What are some conditions with a vitamin D deficiency?

Answer 18

Rickets, immune system, pre-eclampsia, cancer, albinism, vitiligo, problems with inhaled anesthetics

Question 19

Is HIV genetic?

Answer 19

Yes, it is completely genetic.
Individuals need to a molecule that allows for the HIV to get into your cells, this is called tropism. Individuals who lack tropism for HIV or have a mutation in CCR5 do not allow HIV to get in. HIV has to change your genome.

Certain individuals carry a mutation known as CCR5-Δ32 in the CCR5 gene, protecting them against these strains of HIV.

Question 20

What is polygenic and multifactorial inheritance?

Answer 20

It can be said that polygenic inheritance involves complex traits that are determined by many genes at different loci, without the influence of the environment. On the other hand, multifactorial inheritance describes a trait whose manifestations are determined by two or more genes, accompanied by environmental factors.

Question 21

Mendelian inheritance is dichotomous because?

Answer 21

It explains phenotypes that depend on transmission of alleles at a single genetic locus. So you either have it or you don’t (between two states).

Question 22

What is the difference between the stages of development of a butterfly?

Answer 22

gene expression which are based on changes in the nucleosome (how the nucleosome is arranged to expose euchromatin or heterochromatin)

Question 23

Your genes are normally packaged into this if they are not going through mitosis and meiosis.

Answer 23

nucleosome AKA “beads on a string”

Question 24

The central dogma is wrong. What is the more accurate sequence and why is this significant?

Answer 24

DNA–> pre-mRNA–> mRNA–> protein

pre-mRNA matures differently into mRNA through process such as splicing. So you can treat someone at the level of micro RNA, for example in cancer therapy.

Question 25

There are not many genes that encode for proteins. True or false?

Answer 25

TRUE!!

3 bil. (3 X 109) base paire in the entire human genome
100, 000 (1 X 105) identified gene regions
20,000 - 25,000 (2 X 104) gene regions code for protein

Question 26

Genes that encode for protein have __________which confers the ability for the gene to be turned on or regulated, _________which are very important for the amount of gene that is expressed and when it is expressed. There are regions can be transcribed (______) or not transcribed (______). They are both meaningless as they can interconvert between one another depending on the needs of the cell.

Answer 26

promotor
upstream enhancers
exons
introns

Question 27

Aging, myoclonic epilepsy, melas syndrome (encephalomyopathy, lactic acidosi), Ragged-red fibers (MERRF), Parkinson’s disease, and Alzheimer disease all have to do with what kind of DNA?

Answer 27

mitochondrial DNA

Question 28

At one point in time we were all hairy and light skinned living in caves. There was no variation in the population. This is known as?

Answer 28

genetic sweep

Question 29

Dark-skinned and light-skinned individual have higher levels of expression for which type of melanin respectively in melanosomes?

Answer 29

Dark-skinned: a lot of expression of eumelanin in melanosomes
light-skinned: a lot of expression of phenomelanin in melanosomes

Question 30

Higher pigmented and lighter pigmented individuals have higher levels of expression for which type of melanin respectively in melanosomes?

Answer 30

Dark-skinned: a lot of expression of eumelanin in melanosomes
light-skinned: a lot of expression of phenomelanin in melanosomes

Question 31

When there’s a genetic sweep and there’s only 1 gene that determines 1 phenotype, if he tells us that he will pick that young lady and that young man and he asks what would their children look like, what would you tell him?

Answer 31

Just like the parents because there is no variation

Question 32

Cancer does not act so much on evolution. Why?

Answer 32

Usually mutations that are bad (reduce your fitness) are removed from population. However cancer has remained.

Question 33

Redheads have a mutated melanocortin-1 receptor (MC1R) gene that produces an altered receptor for MSH. Individuals with MC1R mutations and thus differing xenobiotic metabolism have increased inhalational anesthetic requirement for desflurane. This is significant because?

Answer 33

genetics plays a role in pharmacokinetic for desflurane

Question 34

A lot of the genes that you had as a child are not same as the ones you have as an adult. This is because of?

Answer 34

horizontal gene transfer

Question 35

Penetrance and expressivity share what common idea?

Answer 35

that not all changes in alleles manifest a phenotype

Question 36

Does genetic change = genetic mutation?

Answer 36

NNOOOO

Question 37

Dominant inheritance and recessive inheritance is what type of pattern?

Answer 37

a phenotypic pattern

Phenotype is the observable, detectable, or outward appearance of the genetics of an organism.

Question 38

Additive effect of independent loci modifies extreme phenotypes by making them become less separate and distinguishable. What helps smooth out the bell curve of phenotypic differences?

Answer 38

the environment

Question 39

The discrete model indicates that in a population there will be normal individuals and the population peaks for them. The threshold model is where you have a number of genes together that then lead you to expressing the phenotype for example, hypertension. How do you calculate your your risk for the different alleles that cause one phenotype like hypertension?

Answer 39

Each allele occurs in 10% of the population =
0.1 X 0.1 X 0.1 = 0.001 or 1/1000 (frequency)
will have genotype x-/y-/z-.

Question 40

Duffy blood group antigen is encoded by the DARC gene, which offers some tropism for malaria. Two types of proteins found for this gene = Fy (a) and (b).
In 1954, blacks had Fy(a-b-) RBC phenotype : 68% in African Americans and 88-100% in African blacks. What genetic phenomenon does this represent? Individuals of Caucasian and Nigerian ancestry are what at the R gene?

Answer 40

genetic admixture
AA for caucasian
GG for Nigerians

The Duffy glycoprotein is a receptor for chemicals that are secreted by blood cells during inflammation. It also happens to be a receptor for Plasmodium vivax, a parasite that invades red blood cells (RBCs) and causes malaria.
So, there was genetic sweep at this locus at one point and time, which lead to selective advantage

Genetic admixture occurs when two or more previously isolated and genetically differentiated populations begin interbreeding. Admixture results in the introduction of new genetic lineages into a population.

Question 41

What are the mutated genes in phenotypic characteristics of hypodontia in Dracula and hypertrichosis in wolf boy?

Answer 41

hypodontia in Dracula: Pax 9 mutation

hypertrichosis in wolf boy: Xq27.1 , X- Dom, Interchromosomal insertion syndrome

Question 42

Prairie wolves, humans, and bonobos have what level of vasopressin compared to Montane wolves?

Answer 42

increased expression

Vasopressin is linked to social behavior
Mating releases dopamine which activates “pleasure centers of BRAIN”

Vasopressin receptors located in the “Pleasure centers” are ASSOCIATED pleasure with bonding.

Question 43

What is the difference between Muhammad Ali (boxer) and Michael J Fox although they express the same phenotypic expression of shaking palsy?

Answer 43

phenocopy for Muhammad Ali
inherited risk for Michael J Fox

Phenocopy - nongenetic duplicate of phenotype

Question 44

When you have the LRRK2 with G2019S in the presence of polychlorinated biphenyls can lead to late onset Parkinson’s disease (PD), in the presence of prenatal pesticides can lead to early onset of cortical Lewy bodies, and in the presence of occupational metals can lead to very late or no PD. What does this indicated about environment influence on genetics?

Answer 44

Environmental Exposures Can Simplify Complex Diseases

Question 45

ApoE4 is considered a risk-haplotype for atherosclerosis and Alzheimer’s disease especially when in double dose. This gene is 20% prevalent in what population?

Answer 45

African Americans

Question 46

Genetic ancestry uses molecular geneology which relies on?

Answer 46

most recent common ancestor (MRCA)

Question 47

What have been some successes in clinical medicine and gene therapy?

Answer 47

gene therapy: transfer of defined genetic material to specific target cells of a patient for the ultimate purpose of preventing or altering a particular disease state

Immune deficiencies

• Severe Combined Immune Deficiency (SCID) was one of the first genetic disorders to be treated successfully with gene therapy
• Adenosine deaminase (ADA) deficiency: HSC’s were treated with a retroviral vector carrying ADA gene. The majority of patients improved immune and no longer need injections of ADA enzyme.

Hereditary blindness

• Leber congenital amaurosis (LCA) greatly imporved vision for at least a few years; treatment has not stopped retinal degeneration
• Choroideremia: 6/9 patients with degenerative disease had improved vision afetr viral delivery of functional REP1 gene

Hemophilia
-Hemophilia B AAV: delivery of Factor IX (Christmas factor) gene to liver cells.