Lec 8. Pedigree Analysis and Genetic Testing

Question 1

Define discontinuous characteristics

Answer 1

relatively few phenotypes

Question 2

Define Continuous characteristics

Answer 2

Continues distribution of phenotypes

Question 3

When do continuous characteristics occur?

Answer 3

when genes at many loci interact

Question 4

Define polygenic characteristics

Answer 4

characteristics encoded by genes at many loci

Question 5

What is an example of continuous characteristics?

Answer 5

skin pigmentation

Question 6

What is FH (familial hypercholesterolaemia)?

Answer 6

Mutation in several genes causing a faulty LDL receptor thus pts have problems with high cholesterol.

Question 7

What do physicians prescribe for someone with a high cholesterol?

Answer 7

Statins

Question 8

What happens if a physician gives a pt with FH statins?

Answer 8

Their cholesterol wont go down with any statins.

Question 9

What is a good polygenic characteristic example?

Answer 9

FH and Type 2 Diabetes.

Question 10

Human disease is a combination of what two things?

Answer 10

Genetics and environment

Question 11

What is heterosis/hybrid vigor?

Answer 11

Is the improved/increased function of any biological quality in a hybrid offspring of pure bred strains.

Question 12

What are some characteristics of heterosis/hybrid vigor?

Answer 12

bigger size,growth, fertility

Question 13

What is a perfect example of heterosis/hybrid vigor?

Answer 13

Mules

Question 14

What is adermatoglyphia?

Answer 14

pts dont have fingerprints on hands or feet.

Question 15

What is a good example of autosomal domaint?

Answer 15

Adermatoglyphia

Question 16

Pertaining to pedigrees how do you know if someone was affected with the said trait?

Answer 16

Its colored in completely

Question 17

Pertaining to pedigrees how do you know someone is a carrier with said trait?

Answer 17

Will have a dot

Question 18

Pertaining to pedigrees how do you know someone is an asymptomatic carrier with said trait?

Answer 18

Has a line splitting it right down the middle

Question 19

What is a pedigree chart?

Answer 19

A document used by genealogists in the study of inheritance of one or more characteristics pertaining to human family history.

Question 20

What is proband?

Answer 20

The person from whom the pedigree is initiated.

Question 21

What is Waardenburg syndrome and what is it a good example of?

Answer 21

Rare genetic disorder characterized by deafness, pigmentation anomalies (white hair) and its an example of autosomal dominant traits.

Question 22

What are some characteristics in autosomal recessive traits pertaining to the pedigree chart?

Answer 22

Normally appear with equal frequency in both sexes, seem to skip generations and are more likely to appear if incest happens.

Question 23

What are some autosomal recessive diseases?

Answer 23

CF, sickle cell anemia, and Tay-sachs disease.

Question 24

What are some characteristics in Autosomal dominant traits pertaining to the pedigree chart?

Answer 24

Appear in equal frequency in both sexes, dont skip generations, unaffected ppl do not transmit the trait, affected ppl have at least one affected parent.

Question 25

What are some characteristics in X-linked recessive traits pertaining to the pedigree chart?

Answer 25

Appear more often in M than F, not passed from father to son, father can pass allele to daughter who is unaffected but carrier.

Question 26

What is are two examples of a X-linked reccessive trait?

Answer 26

DMD (Duchenne Muscular dystrophy) and Classic hemophilia.

Question 27

Which disease is an X-linked dominant form of rickets?

Answer 27

X-linked hypophosphatemia (XLH)

Question 28

What can XLH cause?

Answer 28

Bone deformity, shortness, bow leggedness.

Question 29

How does XLH happen?

Answer 29

Mutation in the PHEX gene that inactivated the PHEX protein

Question 30

What are three characteristics for Y-linked traits?

Answer 30

Only males affected, passed from Fathers to ALL sons, does not skip generations

Question 31

What are three characteristics for X-Linked recessive traits?

Answer 31

Usually more in M than F. Affected sons usually born to unaffected Mothers (traits skip generations). Half of a Female carrier's sons are affected

Question 32

What are three characteristics for X-linked dominant traits?

Answer 32

Usually more F affected than M. Does not skip generations. Affected Fathers pass on trait to all daughters.

Question 33

Define dizygotic twins

Answer 33

nonidentical twins

Question 34

Define monozygotic twins

Answer 34

identical twins

Question 35

Define concordant trait

Answer 35

trait shared by both members of a twin pair

Question 36

What is concordance?

Answer 36

% of twin pairs that are the same for a trait

Question 37

True or False? Monozygotic twins do not have the exact same genetic sequence

Answer 37

False. Have the exactly same genetic sequence

Question 38

Asthma is the result of what?

Answer 38

Hypersensitivity to environmental allergens

Question 39

What are three special features of human biology that hinder genetic research?

Answer 39

Controlled mating is not possible, long generation time, small family size

Question 40

What is the Nuremberg code?

Answer 40

Voluntary consent of the human subject is essential.

Question 41

What is the declaration of Helsinki?

Answer 41

Research with humans should be based on results from lab and animal experiments. Research protocols should be reviewed by an independent committee before starting. Informed consent from participants. Research conducted by medically qualified ppl. Risks shouldnt exceed benefits

Question 42

What is the Belmont report??

Answer 42

A statement of basic ethical principles and guidelines that should assist in resolving the ethical probs that surround research with humans.

Question 43

What is the common rule?

Answer 43

Assure compliance by research institutions, requirements for researchers obtaining and documenting informed consent. IRB memberships, function review of research. Additional protection for certain vulnerable research subjects (kids, prisoners etc).

Question 44

What are two ways to obtain fetal cells for genetic testing?

Answer 44

CVS (catheter through V and sucking some layers of placenta out). Amniocentesis (needle through the moms belly)

Question 45

Interpreting genetic testing is complicated by what two factors?

Answer 45

Some diseases are causes by numerous mutations, and incomplete penetrance and environmental factors.

Question 46

What is GINA?

Answer 46

it is illegal to discrimiate against employees or applicants because of genetic info

Question 47

What is Chloe's law?

Answer 47

Law that requires all hospitals to administer a pulse oximetry screen on every newborn.