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Flashcards in Genetics and Genetic Disorders Deck (22)
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Know the 3 types of drug tolerance

Pharmacodynamic tolerance

Drug becomes less sensitive/responsive (e.g. receptor concentrations change)

Associated with long-term administration of drugs such as morphine and heroin


Reduction in drug responsiveness brought on by repeated dosing over a short time

Metabolic (pharmacokinetic) tolerance

Results from accelerated drug metabolism


Know, in general term, how a protein is made; know general structure of DNA/RNA

During transcription, the info stored in a gene’s DNA is transferred to a similar molecule called RNA in the cell nucleus. mRNA contains the information for making a protein and it carries that message from the DNA out of the nucleus and into the cytoplasm. IN the cytoplasm, the mRNA interacts with a ribosome, which reads the mRNA’s sequence of bases. Each sequence of 3 bases (codons) code for one particular amino acid, which is the building block of proteins. The transfer RNA or tRNA assembles the proteins one amino acid at a time until the ribosome encounters the STOP codon and then the protein folds into itself and becomes the protein we know.

DNA is made up of molecules called nucleotides. Each nucleotide has a phosphate group, a sugar group and a nitrogen base (A, T, G, C). A and G are purines, C and T are pyrimidines. The DNA is found as a double helix composed of 2 chains of nucleotides held together by hydrogen bonds.

RNA is basically the same EXCEPT that the base thymine (T) is replaced by uracil (U) and ribose replaces the deoxyribose (sugar group), also it is single stranded and has a shorter chain of nucleotides



Know what are chromosomes and how many humans have


a threadlike structure of nucleic acids and protein found in the nucleus of most living cells, carrying genetic information in the form of genes.

How many do humans have: 

In humans, each cell normally contains 23 pairs of chromosomes, for a total of 46. Twenty-two of these pairs, called autosomes, look the same in both males and females. The 23rd pair, the sex chromosomes, differ between males and females.



¨Two genes that are close together on the chromosome are called “linked”

¨Linked genes are rarely separated by crossing-over and therefore are usually inherited together



Copies of a gene



a person’s physical characteristics



a person’s genetic material



If a trait is only expressed in a homozygote, it is recessive



If the trait is expressed on a heterozygous it is dominant



Having two identical alleles at corresponding loci on homologous chromosomes



Having two different alleles at corresponding loci on homologous chromosomes



Any chromosome not considered as a sex chromosome, or is not involved in sex determination



is a person or other organism that has inherited a recessive allele for a genetic trait or mutation but does not display that trait or show symptoms of the disease



the study of changes in organisms caused by modification of gene expression rather than alteration of the genetic code itself



is a substance or agent that causes an increase in the rate of change in genes. Examples of mutagens include certain biological and chemical agents as well exposure to ultraviolet light or ionizing radiation.

Mutagenesis is the formation of mutations


Know what a single-gene disorder is and know the various ways its passed onto offspring; know the types of mutations; know the single-gene disorders covered in lecture

Change of a single gene

Results in single protein or enzyme not being produced or having an altered function

Can have trivial or lethal effects depending on gene involved


Can effect one or both autosomal gene pair

Can also affect sex-linked chromosomes

Follow mendelian pattern of inheritance: Gregory Mendel - punnett square


How to pass it onto offspring

Autosomal dominant: non sex, phenotype is shown. When the dominant gene holds the mutation holding a 50% the offspring will get it. 

Aa and aa. A is dominant a is recessive. Showing below is a 50% chance of giving it to offspring. 

                           A        a

Silent mutations: 

Change in a base pair that does not result in a change in the sequence of amino acids in a protein. The protein is still the same. 

“ the fat cat saw the red dog”

Missense mutation: 

A change in an amino acid where the new amino acid has a different property than the old amino acid.

The protein with the new primary structure may have altered, reduced or no activity. Can make it not viable or malfunction. 

“the eat cat saw the red dog”

Nonsense mutation: 

A new stop translation codon formed before the naturally occurring one.

Translation is stopped prematurely and a shortened protein is made

“the fat cat saw”

Frameshift mutation: 

A deletion or insertion of one base results in a change in the translational reading frame

“the efa tca tsa wth ere ddo”


Know what is polyploidy, and the types of polyploidy

Polyploidy, the condition in which a normally diploid cell or organism acquires one or more additional sets of chromosomes. In other words, the polyploid cell or organism has three or more times the haploid chromosome number.

More than diploid number of cells

Triplody (69), tetraploidy (92)

10% of miscarriages, incompatible with life


Know what is aneuploidy and types; know the disorders covered in lecture

Aneuploidy: 1 or 3 copies of a single chromosome

Monosomy - Turner syndrome (a female is born with 1 “X” chromosome)

Polysomy - 


Down Syndrome: Extra chromosome on the 21st (Trisomy) 

Edwards Syndrome: Extra chromosome on 18th (Trisomy)

Klinefelter Syndrome: XXY - male is born with an extra copy of the X chromosome

XYY Syndrome - may have increased risk of learning difficulties and speech development

XXX Syndrome - Learning difficulties, decreased muscle tone, seizures, or kidney problems


Know what it is meant by “Multifactorial Disorders;” know what Teratogenesis/teratogens means; know when are teratogens most affected

Multifactorial Disorders: Both multiple genes and the environment could affect one trait

Teratogenesis is literally birth defects.

the process by which congenital malformations are produced in an embryo or fetus.



    -Gross malformations (What you can see with yo eyes)

        -Cleft Lip

        -Club foot



    -Neurobehavioral and metabolic anomalies (Stuff you can’t see)


- Teratogens most affected

    Development occurs in three stages:
    -Conception through week 2

    -Embryonic period: Weeks 3 through 8
        Gross malformations produced by teratogens
    - Fetal period: Week 9 through delivery
        Functions disrupted with teratogen exposure


Know what it is meant by “Mitochondrial Disorders.”

Mitochondria are unable to completely metabolize/generate energy

Loss of muscle coordination, muscle weakness

Gastrointestinal disorders, severe constipation

Developmental delays, learning disabilities

Visual and/or hearing problems

Neurological problems, seizures

Heart, liver, or kidney disease

Increased risk of infection

Respiratory disorders

Thyroid dysfunction

Poor growth




Know, in general terms, genetic tech covered in lecture

DNA fingerprinting: 

Used to test parentage and used in forensics

DNA sequencing: 

Dideoxynucleotides (ddNTPs) lack the 3’-hydroxyl group necessary for forming a phosphodiester bond

Recombinant DNA: 

E.g. Insulin

Not just bacterium, but other species, as well


Did it go to the right place?

Rodents epigenetics are not as complicated as humans are making it harder to clone

CRISPR: Clustered regularly interspaced short palindromic repeats

Bacterial defense system

repeating sequences of genetic code, interrupted by “spacer” sequences

Remnants of genetic code from past invaders

Serves as a genetic memory that helps the cell detect/destroy invaders

Cut by Cas9 protein

Very precise and cheap 

RNA sequencing : epigenetics 

Prenatal screening: 

You may go into preterm labor

Now you can get blood tests done

BBB is not kept 100% separate, high false positive rate