good genes gone bad quizzes and answers

1. right after the gene is transcribed into RNA, what must be removed from the RNA

introns

1. clinical features: hyper mobility of joints, hyper-extensible skin, bruising and bleeding issues.

Ehlers-danlos syndrome

1. chromosomes are contained in what cellular structure

nucleus

1. genes are made up of what (chemically)

DNA

1. Which of the following is NOT a DNA base:

A

G

C

U

U

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

three billion

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

3 bases

1. abdominal pain, tachycardia, photosensitivity, skin blistering, port colored urine

porphyria variegata

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

gregor mendel

1. what type of plants did the aforementioned monk use in his crosses

pea plants

2. abnormal cell growth or development of an organ or tissue

dysplasia

2. abnormal hypersynchronous activity of neurons in the brain

epilepsy

2. variants for which disorder are found at higher frequencies in countries with high levels of malaria

sickle cell diesease

2. what element does not make up the chemical formula of DNA

iodine (I)

2. making RNA from an mRNA is called what

translation

2. Making RNA from DNA is called what

transcription

2. making DNA from DNA is called what

replication

2. mendels laws of inheritence

law of segregation, law of independent assortment, law of dominance

2. what mutation creates a premature stop codon in protein translation

nonsense mutation

2. T/F environmental influences can affect whether a mutation will lead to a genetic disorder

true

3. Antonie van Leeuwenhoek, the first to observe microbes, is considered the father of what

microbiology

3. where the cell replicates its chromosomes and divides so that the daughter cells have the same number of chromosomes as the original cell is

mitosis

3. T/F the same diesease can be caused by mutations in different genes

true

3. common variants (mutations) what percent

1%

3. most disease causing mutations are what?

loss of function, recessive

3. opposite of hypertrichosis

hypotrichosis

3. previous word for bipolar

manic depression

3. van gogh- licking paint- what was contained in the paint

lead

3. false about dominant mutations

always missense mutations

3. t/f malaria was transmitted by mosquito

true

4. take a breath

:)

4. the process of cell division which reduces the chromosome number to half to form sperm or eggs is called what

meiosis

4.T/F 2 different egg cells can have different combinations of parental and maternal chromosomes

true

4. which scientists did not effectively duplicate the results of Mendel

isaac newton

4. for autosomal recessive what is false

an affected father and unaffected mother can only pass the disorder on to daughters

4. polydactyly refers to extra copies of what

fingers and toes

4. what is false about polydactyly

polydactyly is always sporadic and does not run in families

4. what is true about polydactyly

one of the treatments involves cautery

4. what is false about meiosis

a chromosome inherited from mom is IDENTICAL to the homologous chromosome inherited from dad

4. T/F chromosome segregation problems during meiosis can lead to chromosomal disorders like down syndrome

true

5. sickle cell disease and beta-thalassemia are examples of what

hemoglobinpathies

5. what is true about congenital hypertrichosis

the disorder can either be generalized or localized to a certain part of the body

5. T/F in his studies with pea plants, Mendel observed partial dominance

false

5. van gogh cut what off impulsively

his ear

5. what contributes to disease severity

genetic background of person, environmental influences, pathogenicity

5. what could potentially cause disease

mutations that reduce function of gene, eliminate function. resultant protein ti fold improperly, resultant protein to be shorter.

5. SS and Ss alleles are considered

homozygous and heterozygous

5. what is not a genetic disorder

regulski neuropathy

5. many more people have brown eyes than blue, what does this say about the alleles controlling eye color

brown is dominant, blue is recessive

5. T/F DNA was NOT known to be the hereditary material when Mendel Proposed that heredity is controlled by genes (i.e. atoms of inheritance)

true

6. what is used as a unique identifier to locate disease genes in the genome

SNPs

6. mendels luck was such that it allowed him to propose the law of independent assortment how so?

the traits that he studied were encoded by genes that resided on different chromosomes

6. T/F for mapping a single high effect size disease mutation that can be tracked from generation to generation in a family, an association study is preferred.

false (linkage)

6. GWAS stands for what

Genome wide association study

6. a "test cross" (e.g. crosing hybrid plant w double recessive plant) is used for what purpose

so all phenotypes can be observed

6. what is true about GWAS

1. multiple genes associated with a disorder can potentially be identified 2. generally speaking, thousands of patients and thousands of controls are used in a GWAS 3. for a common disorder, different assortments of mutated genes can cause the same disease phenotype

6. what is true about x linked dominant disorder

affected fathers can only pass the disease to their daughters

6. what is true regarding x linked recessive disorder

affected mothers can only pass the disease to their sons

6. which of the following terns is not like the others (recombination, crossing over, exchange of genetic material, replication)

replication

6. T/F the loser the genes/ DNA markers are on the chromosome, the less likely they will be disconnected from one another during recombination

true

7. what type of genetic disorder appears in the progeny of unaffected parents, with equal numbers of sons and daughters being affected

autosomal recessive

7. what type of genetic disorders is such that an affected male passes the conditions on to all his daughters and none of his sons

x linked dominant

7. T/F the energy producers of a cell (mitochondria ) have their own DNA, which contains genes

true

7. what type of genetic disorder is such that none of the offspring of an affected male show the phenotype although overall, many more males many more males will show the phenotype for this type of disorder

x linked recessive (balding)

7. what type of genetic disorder is such that approximately 50% of the kids of a mother w a genetic disorder are affected with the disorder

autosomal dominant or x linked dominant

7. what is an example of MATERNAL inheritance

mitochondrial disease

7. which of the following disorders is such that only one particular gender can inherit the disorder

sex-limited inheritance

7. which is true regarding baldness and hemophilia

both are x-linked recessive

7. what does tbi stand for

traumatic brain injury

7. T/F two black labradors could in theory give rise to black, chocolate, and yellow labs

true