Genetic Testing

Question 1

What are three observed types of hereditary diseases

Answer 1

-single gene mutation
-mutation in any one of multiple genes
-combination of gene mutation and outside factors

Question 2

what are the three classifications of hereditary disease

Answer 2

mendelian conditions
chromosomal condition
multifactorial condition

Question 3

what does molecular analysis test? what condition is it useful in?

Answer 3

tests DNA or RNA, useful for specific mendelian conditions

Question 4

6 types of genetic testing

Answer 4

-presymtomatic genetic testing
-carrier genetic testing
-newborn genetic screening
-prenatal genetic testing
-preimplantation genetic screening
-direct-to-consumer genetic testing

Question 5

how many repeats does a normal HD gene contain? what triplet is repeated

Answer 5

up to 34
CAG repeats

Question 6

what type of testing determines if a person is a heterozygous carrier for a recessive disease? if one person is a carrier does their partner need to be tested?

Answer 6

carrier genetic testing.
yes, if both parents are carriers there is a chance of having a child with the condition

Question 7

T/F the newborn genetic screening mandated in all 50 US states

Answer 7

TRUE

Question 8

what is the main disease screened for using the Guthrie test

Answer 8

phenylketonuria(PKU)

Question 9

what is the Guthrie test also known as

Answer 9

heel stick

Question 10

what 3 abnormalities does prenatal genetic testing look for

Answer 10

chromosomal
developmental/growth
hereditary disease

Question 11

fetal cell sorting is done how? and identifies which diseases?

Answer 11

isolates fetal cells in maternal blood for DNA chromosome analysis.
Identifies cystic fibrosis and spinal muscular atrophy

Question 12

what is genetic counseling?

Answer 12

consultants who communicate info about upcoming genetic tests/results
-manage concerns surrounding genetic conditions

Question 13

what analysis does the probability estimation use

Answer 13

bayesian analysis, uses known/inferred genotype info from prior offspring of parents

Question 14

what is prior probability

Answer 14

the likelihood that a determined genotype will be present in a specific individual

Question 15

what is conditional probability

Answer 15

calculated using traits of other offspring with same parents as individual of interest

Question 16

what is joint probability

Answer 16

calculated by multiplying prior probability by conditional probability

Question 17

mendelian conditions
-what causes them
-modes of inheritance

Answer 17

-mutation of a single gene
-autosomal, sex linked, or mitochondrial mode of inheritance
-dominant or recessive