Pedigree

Question 1

pedigreee

Answer 1

shows how a trait is inherited

Question 2

carrier

Answer 2

individuals who are hetero and do not show symptoms of the disease

Question 3

first person with the genetic disorter in a pedigree

Answer 3

proband

Question 4

the person who brings the family to the geneticist

Answer 4

consultand

Question 5

kindred

Answer 5

all family in tree

Question 6

mendelian disorders are known as

Answer 6

single gene disorders

Question 7

what are the 2 factors that pedigrees depend on

Answer 7

1. if phenotype is dominant or recessive

2. choromsomal location of the gene locus

Question 8

if a person has a AD phenotype what is theri chance of transmitting the allele?

Answer 8

50% chance , this accounts for more than half of all mendelian disorders

Question 9

AD DISORDER:

what is the most common pattern of inheritance for AD

Answer 9

verticle , in every generation .

Each child has a 50% chance of inheriting it if they have an affected parent.

If a child has it, they MUST have at least one AFFECTED parent.

clinical variability

Question 10

compound heterozygytes

Answer 10

both alleles are mutant at the same locus

Question 11

AR DISORDER

Answer 11

Affect men and women equally.

likely occur when maried bn family (consanguinity)

Child can get it without having an affected parent

Each child of a carrier parent has a 25% chance of being affected

Horizontal Pattern

Less clinical variablity

Question 12

blue eyes
red hair
cystic fibrosis
sickcle cell

all these remind you of…

Answer 12

AR traits

Question 13

X LINKED DOMINANT

Answer 13

more affected females than males

lack of male to male transmission (fathers pass y to sons ). But all daughters will have the disease

verticle transmission

Question 14

examples of x linked dom traits

Answer 14

rickets
Rett
incontienta pigmenti

Question 15

HOW TO DISTINGUISH AD FROM XLD

Answer 15

FIND AN AFFECTED MALE:

ONLY GIVE TO DAUGHTERS (NOT SONS = X LINKED DOM

Question 16

XLR

Answer 16

USUALLY ONLY AFFECTS MALES BECAUSE EVEN THOUGH IT IS RECESSIVE THEY ONLY HAVE 1 X

FEMALES HAVE AN EXTRA SO SYMPTOMS AINT BAD

Males get it from thier mother

DIAGONAL

Question 17

Examples of XLR

Answer 17

color blind, hemophelia, G6PD, Musclular dystrophy

Question 18

Y LINKED DISEASE

Answer 18

MALE TO MALE TRANSMISSION ONLY

Question 19

heterogenity

Answer 19

different mutations can cause similar phenotypes

huntingtons disease
cystic fibrosis

Question 20

how to determine risk

Answer 20

1. determine what kind
2. determine genotype
3. put in punnet squarr

Question 21

incomplete penetrance

Answer 21

have the genotype, not the phenotype

Question 22

expressivity

Answer 22

the serverity of the disease varies