Good Genes Gone Bad

Right after a gene is transcribed into RNA, what must be removed from the RNA?

Introns

A true-breeding tall plant and true-breeding short plant are mated to produce hybrids. What size are the hybrids?

All tall

Chromosomes are contained in what cellular structure?

Nucleus

Genes are made up of what (chemically)?

DNA

What are the DNA bases?

A, G, C, T

How many basepairs of DNA are present in each cell of your body?

Three billion

When RNA is "read" to make a protein, how many bases at a time are read (for each protein building block)?

Three bases

King George III suffered from what genetic disorder?

Porphyria variegata

The monk who is considered the founder of genetics was named what?

Gregor Mendel

What type of plants did Mendel use in his crosses?

Pea plants

Mutation that results in the wrong amino acid replacing the correct one

Missense mutation

For a sex-link dominant disorder, which of the following is FALSE?

An affected father can transmit the disorder to his son

For a sex-linked recessive disorder, which of the following is FALSE?

An unaffected father and carrier mother can transmit the disorder to their daughter

For an autosomal dominant disorder, which of the following is false?

A father with an autosomal dominant disorder will transmit the disorder to all his children

For an autosomal recessive disorder, which of the following is false?

An affected father and an unaffected mother can only pass the disorder onto their daughters.

Mutations in what DNA regions are considered regulatory mutations?

Both enhancers and promoters

When a mutation causing a disease is in some people but not in others

Incomplete penetrance

Which of the following is NOT one of Mendel's Laws of Inheritance?

Law of gene linkage

Which of the following is FALSE about mutations causing Mendelian disorders?

The mutations are always missense mutations

Environmental influences can affect whether a mutation will lead to a genetic disorder in a person

True

Which of the following is true about a dominant disorder?

Individuals affected with the disorder tend to appear each generation

If a male has an X-linked dominant disorder, he would pass the disorder onto which of his children?

Only his daughters

Variants causing severe Mendelian disorders are generally what?

Rare in the population

A male and female black Labrador can in theory give rise to puppies that are black, chocolate, and yellow

True

Which statement is false about the adaptive immune system?

Exposure leads to immediate maximal response

B cells that become antibody factories are called what?

Plasma cells

Both B cells and T cells can be memory cells

True

Which of the following is considered a phagocyte?

Macrophage

Which of the following is false about the cell-mediated response of the acquired immune system?

B lymphocytes are involved in the response

Genetic disorder characterized by dwarfism, wide cranial sutures, dental anomalies, increased bone density, and bone fragility

Pycnodysostosis

Roughly how many genes are in the human genome?

20,000

The process where RNA is made from DNA

Transcription

An enhancer of a gene can bind a repressor protein

True

Triplet of RNA bases that make up genetic code

Codons

A tall plant with smooth seeds is crossed to a short plant with wrinkled seeds (tall and smooth are the dominant traits). The hybrids are then crossed together and 4 phenotypes (tall, smooth; tall, wrinkled; short, smooth; short, wrinkled). Provided these genes are not linked, what ratio is observed regarding these progeny?

9:3:3:1

What type of disease transmission in affected moms OR affected dads transmitting the disorder to both sons and daughters?

Autosomal dominant transmission

An RNA must always be spliced in exactly the same way, regardless of what tissue it's expressed in

False

When an affected male can transmit the disorder to only sons while an unaffected female can also transmit the disorder to only sons, this is an example of what?

Sex-linked autosomal dominant inheritance

Mendel was really lucky in that all his traits followed the law of independent assortment. What phenomenon causes this law to sometimes be broken?

Gene linkage due to the genes being close together

Baldness is an X-linked recessive trait. Which of the following is TRUE when a bald woman has children with a man that is NOT bald?

All the sons will be bald

The process where protein in made from RNA

Translation

For nonidentical twins, one can be a boy and one can be a girl

True

When everyone inherits a disease-causing mutation gets the disease, but some individuals show mild disease whereas others show moderate or severe disease

Variable expressivity

In a simple pedigree, how would you number the third child born from two parents?

II-3

Which of the following is false about meiosis?

After the first meiotic division, chromosomes are able to cross over in order to exchange genes

The most common case of death for lupus patients is what?

Cardiovascular (heart) disease

You differ from your neighbor by about how many DNA basepairs?

Three million

In lupus, oftentimes antibodies are generated that recognize what part of your cellular structure?

DNA

Mutation rate for humans

3 x 10-8

Genetic disorder with symptoms of rapid pulse, fever, yellow/bloodshot eyes, abdominal cramps, constipation, leg cramps, skin blistering, red urine, rambling speech, hallucinations

Porphyria veriegata

Penatrance

How likely you are to manifest disease

Sex linked mutations

On sex chromosomes

Autosomal mutations

On any other chromosome

"Vampire disease," associated with abnormalities of external structures, prominent forehead, thick lips, flattened bridge of nose

Hypohidrotic Ectodermal Dysplasia

What genetic disorder did Henri de Toulouse-Lautrec have?

Skeletal dysplasia (Pycendysostosis)

Rare autosomal recessive disorder with symptoms of dysmorphic craniofacial features, short, bone fragility

Skeletal dysplasia (Pycendysostosis)

Consanguineous

Related by blood

Disease where blood doesn't clot and can cause cerebral hemorrhages

Hemophilia

X-linked recessive disorders are often manifested in men rather than women

True

What disorder did Niccolo Paganini have?

Ehlers-Danlos Syndrome (EDS)

Disorder with symptoms of being tall, gaunt, angular, thin, very pale, aged prematurely, bony hands, big feet, long neck, cadaverous facial features, hyperextensible joints

Ehlers-Danlos Syndrome (EDS)

What disorder did Abraham Lincoln have?

Marfan Syndrome

Disorder with symptoms that include long extremities (in comparison to height), bony/elongated fingers, large feet, sunken chest, thing/elongated/small head, slight stoop, loose jointed, eye issues

Marfan Syndrome

Variable expressivity

Disorders manifested in different ways

Full penetrance & variable expressivity is a classic combo in human diseases

True

Van Gogh had what genetic disorder?

Bipolar Disorder

What genetic disorder gives you severe psychosis & extreme shifts in emotional stae, periods of depression, and mania (associated with impulsive decisions)

Bipolar Disorder

"Werewolf syndrome," rare X-linked dominant inheritance that can be generalized or all over the body, encourages growth, pointed canines, hair growth

Congenital hypertrichosis

Proteins that carry out all the action

Ribsomes

SNPs (Single Nucleotide Polymorphisms)

alterations of single basepairs

Indel

Insertion or deletion, what causes variation

We have about how many genes?

20,500

Promoter

section of DNA just upstream of transcription start site

AUG

Start codon

UGA

Stop codon

Doesn't change the amino acid due to its location at the 3rd position of the codon

Synonymous variant

Premature stop codon created

Nonsense mutation

Inhibits proper splicing

Splice site mutation

Can be caused by indels

Frame shift mutation

In any of the sequences required to regulate gene expression

Regulatory mutation

When breeded, makes the same characteristics

"True-breeding"

Phenotype

What it looks like

Geneotype

What alleles it has

Homozygous

If 2 alleles are the same

Heterozygous

If 2 alleles are different

Alleles for each gene segregate from each other so each gamete carries only one allele for that gene during gamete formation

Law of segregation

Genes for different traits can segregate independently during the formation of gametes

Law of independent assortment

Some alleles are dominant while others are recessive, at least one dominant allele will display the effect of the dominant allele

Law of dominance

Spectrum of how severe the disease is

Variable expressivity

The heterozygous is in the middle (the tall and short plant make a medium plant)

Incomplete dominance

No allele is dominant over the other, primarily seen in blood types

Codominance

The person who got us interested in studying this family

Proband

Sex-limited

Can only affect one sex, very rare

Disease showing inheritance that follows Mendel's Laws, always going to be severe and often rare

Mendilian disorders

Inherited disorders of hemoglobin structure and function

Hemoglobinopathies

Disorder that causes red blood cells to be deformed into sickle shape when oxygenated

Sickle Cell Anemia

Beta chain variants of hemoglobin are associated with the disorder

Beta-thealassemia

The cells are in interphase when...

chromosomes aren't visible

Sperm and egg have 1/2 number of chromosomes

True

Test cross

Crossing the hybrid with a double recessive