genetics

Question 1

how many chromosomes are in humans?

Answer 1

46

Question 2

how many pair of autosomes?

Answer 2

22

Question 3

which chemical compound contains the genetic instructions needed to develop and direct the action of every organism?

Answer 3

DNA- deoxyribonucleic acid

Question 4

how many twisting strands make up the DNA?

Answer 4

two

Question 5

the twisting strands of the DNA are made up of which three chemicals?

Answer 5

phosphoric acid (P)
deoxyribose (S)
paired nucleotide bases
-adenine to thymine
- guanine to cytosine

Question 6

which chemicals are the backbone of the DNA twisting strands?

Answer 6

deoxyribose and the paired nucleotide bases

Question 7

what do the backbone of the DNA strands do?

Answer 7

provide structural support

Question 8

what do you call the compound that directs the synthesis of protein?

Answer 8

RNA-ribonucleic acid

Question 9

where is DNA located?

Answer 9

nucleus

Question 10

where does protein synthesis occur?

Answer 10

cytoplasm

Question 11

what does mRNA do

Answer 11

-carries genetic code from nucleus to cytoplasm
-directs the formation of protein

Question 12

what does tRNA do

Answer 12

-transports specific amino acids to ribosomes for protein synthesis on the ribosomes

Question 13

what does rRNA do

Answer 13

-actually makes the protein

Question 15

the process where the genetic code is transferred to messenger RNA

Answer 15

transcription

Question 16

the process where protein is formed under the direction of mRNA

Answer 16

translation

Question 17

two corresponding genes, and can be either dominant or recessive,

Answer 17

allele

Question 18

actual DNA genetic make up

Answer 18

genotype
ex: gene for red hair

Question 19

outward physical representation of gene

Answer 19

phenotype

Question 20

normal genes that control cell growth

Answer 20

proto-oncogenes

Question 21

abnormal genes that control cell growth and cell mitosis

Answer 21

oncogenes

Question 22

genetic variant (defect)

Answer 22

mutation

Question 23

proportion of individuals carrying a particular variant of a gene that express an associated trait

aka portion of people with the mutation who show the disease

Answer 23

penetrance
ex: 95% penetrance with mutation will develop disease, 5% will not

Question 24

genetic variant with population frequency > 1%

Answer 24

polymorphism
ex: CYP450 enzymes in liver
-in charge for most of the phase 1 drug metabolism in liver
-polymorphisms can cause changes in drug metabolism (poor metabolizers to ultra rapid metabolizers)
-drug metabolism changes fat solubles to water soluble (hydrophillic)

Question 25

most common type of genetic variation in humans that primarily effects gene quality

Answer 25

single nucleotide polymorphism (SNPs or snips)
ex: sickle cell

Question 26

an organism’s complete set of DNA that lies within the 23 pairs of chromosomes within the nucleus of all cells

Answer 26

genome

Question 27

how the exact order of the base pairs in DNA are made

Answer 27

genomic sequencing

Question 28

dominant alleles are heterozygous or homozygous?

Answer 28

heterozygous

Question 29

recessive alleles are heterozygous or homozygous?

Answer 29

homozygous

Question 30

the single-gene diseases?

Answer 30

autosomal dominant
autosomal recessive
x-linked dominant
x-linked recessive

Question 31

disease where an abnormal gene from one parent can cause the disease, even though the matching gene from the other parent is normal because the abnormal gene dominates

Answer 31

autosomal dominant
-each child has a 50% risk of inheriting the disorder
-half of the children will be heterozygous and express the disease

Question 32

neurofibromatosis
marfan’s syndrome
malignant hyperthermia
huntington’s disease
achondroplasia
are all types of what genetic inheritance

Answer 32

autosomal dominant

Question 33

when a parent carries one recessive gene but is not affected by the condition?

Answer 33

carriers/heterozygotes

Question 34

the child who inherits both abnormal gene copies from parents

Answer 34

homozygote

Question 35

when child receives two copies of defective gene

Answer 35

autosomal recessive inheritance

Question 36

sickle cell disease
cystic fibrosis
phenylketonuria
are all examples of what type of inheritance

Answer 36

autosomal recessive disorders

Question 37

gene causing the trait located on the X chromosome

Answer 37

x-linked recessive

Question 38

red-green colorblindness
hemophilia A
Hemophilia B or Christmas Disease
Duschenne and Becker’s muscular dystrophy
Glucose-6-phosphate dehllydrogenase deficiency
are all examples of which type of disorder

Answer 38

x-linked recessive

Question 39

process where protein is formed under the direction of mRNA

Answer 39

translation