single gene inheritance

Question 1

what are the characteristics of single-gene diseases

Answer 1

can infer that a person inherited a single gee disease by considering how he or she is related
tests can predict the risk of developing symptoms

Question 2

how can the single gene diseases be “fixable” (example)

Answer 2

by replacing what is missing in the body
(providing a missing enzyme or clotting factor or even by adding a working copy of the gene to affected cells)

Question 3

how does the mode of inheritance of single-gene diseases affect familied in patterns

Answer 3

the disease is ez to trace how disease moves through a fam tree
families in pattern = as it shows up in recognizable patterns bcs they are caused by changes in just ne gene

Question 4

autosomal dominant vs autosomal recessive (examples)

Answer 4

autosomal dominant (Huntington Disease)
- need just one affected gene from either parents to show up for the disease to appear
- 50% chance the child will inherit

autosomal recessive (Cystic Fibrosis)
- requires 2 affected gene, 1 frm each parent
- if inherits one only, they wont have disease but may be a carrier

Question 5

it reveal which single-gene health conditions we have, carry or may develop

Answer 5

exome and genome sequencing

Question 6

he derives the 2 laws of inheritance that determine how these traits are transmitted from one generation to the next

Answer 6

Gregor Mendel

Question 7

briefly explain Mendel’s experiment

Answer 7

dominant is more likely to show up if at least one parent passes them
while
recessive only appears if both parents passed on the recessive version of the gene

Question 8

it always produce the same phenotype

Answer 8

“true-breeding” - pure breeding line

Question 9

monohybrid cross -
self crossed -

Answer 9

monohybrid cross - follows one trait

self crossed - plants are hybrids
hybrids are their offspring and may show inheritance pattern

Question 10

it explains the actions of chromosomes and the genes that they carry during meiosis

Answer 10

law of segregation

Question 11

homozygous vs heterozygous

Answer 11

homozygous:
an indiv with 2 identical alleles for a gene
-homozygous dominant:
2 dominant alleles, TT
-homozygous recessive:
2 recessive allele, tt

heterozygous:
“non-true breeding” or “hybrid”
an indiv with 2 diff alleles
-heterozygous: 1 dominant, 1 recessive, Ttt
-compound heterozygous: indiv with 2 diff recessive alleles for the same gene

[capital letter is dominant while small letters are recessive]

Question 12

true or false:
an organism’s appearance reveals its allele

Answer 12

false - does not always

Question 13

it is the most common expression of a particular allele combination in a population

Answer 13

wild type phenotype
may be recessive or dominant

Question 14

it is a variant of a gene’s expression that arises when the gene undergoes a change or mutation

Answer 14

mutant phenotype

Question 15

briefly explain the Mendel’s law of Segregation

Answer 15

index card

Question 16

it represents how genes in gametes join if they are on different chromosomes

Answer 16

punnett square
*crossing the patterns produced offspring numbers that are close to these ratios

Question 17

crossing an individual of unknown genotype with a homozygous recessive individual

Answer 17

test cross

Question 18

single gene on chromosome 15

Answer 18

it demo how 1 gene affects a specific traits

Question 19

main difference between punnett squares and test cross

Answer 19

punnett squares:
predict offspring traits

test cross:
reveal unknown genotypes

Question 20

briefly explain the similarities and difference between autosomal dominant and autosomal recessive

Answer 20

similarities :
males and females affected w equal frequency

differences:
D has successive generations affected until no one inherits the mutation while R can skip generations

Question 21

a person has inherit 2 copies of the mutated gene. 1 gene from each parent

Answer 21

homozygous recessive genotype

Question 22

it is the wild type allele masks expression of the mutant allele

Answer 22

heterozygotes (carriers)
- ppl with 1 normal gene and 1 mutated gene = cant show traits but can pass mutated genes to their children

Question 23

this is introduced between relatives, which means “shared blood” - a figurative description, because genes are not passed in blood

Answer 23

consanguinity

Question 24

this is when alleles inherited from shared ancestors

Answer 24

“identical by descent”
- relative inherit genes from common ancestors

Question 25

what is the second’s law of Mendel

Answer 25

Law of Independent assortment

Question 26

it arises from the genotype and reflect the characteristics or abundance of a protein

Answer 26

dominance and recessiveness

Question 27

'’loss-of-function” -
“gain-of-function” -

Answer 27

'’loss-of-function” - dominant because they result from the action of an abnormal
“gain-of-function” - recessive as it prevents the production of normal protein

Question 28

which of the 2 (dominant and recessive) is more severe in terms of disease

Answer 28

recessive genetic disease often independent cause more severe symptoms and appear earlier in life compared to dominant disease

if dominant mutation causes serious health issue early on, individuals with that mutation may not survive long enough to pass it on

Question 29

these can be used to trace a conditional probability

Answer 29

pedigrees
punnett squares

Question 30

it is used to display family relationships and depicts which relatives have specific phenotypes and sometimes genotypes

Answer 30

pedigree analysis

Question 31

vertical lines:
horizontal lines that connect 2 shapes at their centers:
shapes connected by vertical lines that are joined horizontally:
squares:
circles:
diamonds:
roman numbers:
arabic numerals:
dotted lines:

Answer 31

vertical lines: generations
horizontal lines that connect 2 shapes at their centers: partners
shapes connected by vertical lines that are joined horizontally: siblings
squares: male
circles: female
diamonds: individuals of unspecified sex
roman numbers: generations
arabic numerals: individuals in a generation
dotted lines: adopted

*more on ppt

Question 32

it states that the the chance that 2 independents events will both occur equals the product of the chances that either event will occur alone

Answer 32

probability theory: product rule

Question 33

it states that 2 genes on different chromosomes, the inheritance of one gene does not influence the chance of inheriting the other gene

Answer 33

law of independent assortment

*bcs they r packed aged into gametes at random chromosomes