Genetics, Race, and your Health Flashcards
Race contributes to your genetic make up. True or false?
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.
The variation within all cultures is encompassed in the main variation that you see where?
in the African diaspora
Genetic variation between populations is minimal. True or false?
TRRUUEEE.
Genetic variation is between 0.01 to 0.05%
Genetic variation between populations is minimal. True or false?
TRRUUEEE.
Genetic variation is between 0.01 to 0.05%. The genetic makeup of everyone is 99.5% the SAME.
All cells in your body has the same genes. True or false?
TRRUUUEEEE!!!!
It’s all about the turning on and off of genes that give rise to “different” cells in the body.
All cells in your body has the same genes. True or false?
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.
What are the two forms of DNA that are uniquely inherited?
mitochondrial DNA that you inherit from your mother
Y chromosome comes from your father
What is genetic admixture?
Genetic admixture occurs when two or more previously isolated populations begin interbreeding. Admixture results in the introduction of new genetic lineages into a population.
How can skin reflectance lead to evolution (differences in fitness and adaptability in different environments)?
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.
What is fitness?
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.
The skin and hair is determined by the regulation of the amount of pigment that you produce. What is this pigment?
melanin which are produced in melanosomes
We all have the same number of melanocytes but what makes us have different complexions?
the body site distribution or density of the melanocyte cells
We all have the same number of melanocytes but what makes us have different complexions?
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.
What is inheritability?
what are the genetic differences within a population of individuals that determines how they may look
What is inheritability?
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
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?
JUST LIKE THE PARENTS!!!
because there is no variability
How does diet affect skin pigmentation?
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.
What are some conditions with a vitamin D deficiency?
Rickets, immune system, pre-eclampsia, cancer, albinism, vitiligo, problems with inhaled anesthetics
Is HIV genetic?
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.
What is polygenic and multifactorial inheritance?
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.
Mendelian inheritance is dichotomous because?
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).
What is the difference between the stages of development of a butterfly?
gene expression which are based on changes in the nucleosome (how the nucleosome is arranged to expose euchromatin or heterochromatin)
Your genes are normally packaged into this if they are not going through mitosis and meiosis.
nucleosome AKA “beads on a string”
The central dogma is wrong. What is the more accurate sequence and why is this significant?
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.
There are not many genes that encode for proteins. True or false?
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
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.
promotor
upstream enhancers
exons
introns
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?
mitochondrial DNA
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?
genetic sweep
Dark-skinned and light-skinned individual have higher levels of expression for which type of melanin respectively in melanosomes?
Dark-skinned: a lot of expression of eumelanin in melanosomes
light-skinned: a lot of expression of phenomelanin in melanosomes
Higher pigmented and lighter pigmented individuals have higher levels of expression for which type of melanin respectively in melanosomes?
Dark-skinned: a lot of expression of eumelanin in melanosomes
light-skinned: a lot of expression of phenomelanin in melanosomes
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?
Just like the parents because there is no variation
Cancer does not act so much on evolution. Why?
Usually mutations that are bad (reduce your fitness) are removed from population. However cancer has remained.
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?
genetics plays a role in pharmacokinetic for desflurane
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?
horizontal gene transfer
Penetrance and expressivity share what common idea?
that not all changes in alleles manifest a phenotype
Does genetic change = genetic mutation?
NNOOOO
Dominant inheritance and recessive inheritance is what type of pattern?
a phenotypic pattern
Phenotype is the observable, detectable, or outward appearance of the genetics of an organism.
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?
the environment
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?
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-.
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?
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.
What are the mutated genes in phenotypic characteristics of hypodontia in Dracula and hypertrichosis in wolf boy?
hypodontia in Dracula: Pax 9 mutation
hypertrichosis in wolf boy: Xq27.1 , X- Dom, Interchromosomal insertion syndrome
Prairie wolves, humans, and bonobos have what level of vasopressin compared to Montane wolves?
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.
What is the difference between Muhammad Ali (boxer) and Michael J Fox although they express the same phenotypic expression of shaking palsy?
phenocopy for Muhammad Ali
inherited risk for Michael J Fox
Phenocopy - nongenetic duplicate of phenotype
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?
Environmental Exposures Can Simplify Complex Diseases
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?
African Americans
Genetic ancestry uses molecular geneology which relies on?
most recent common ancestor (MRCA)
What have been some successes in clinical medicine and gene therapy?
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.
