Genetics 3

Question 1

Duchenne and Becker Muscular Dystrophy are both caused by mutations in

Answer 1

n the dystrophin gene (allelic heterogeneity)

Question 2

epigenetic mutations are transmitted in somatic cells but reversible in

Answer 2

gametogenesis

Question 3

Phenotypic expression for both Mendelian and non-Mendelian disorders will always be

Answer 3

dependent on the interaction between the genes involved and the environment

Question 4

In a GWAS, linkage disequilibrium as defined above means that knowing one SNP can allow you to cover up to

Answer 4

20k basepairs

Question 5

allows even division of cells during mitosis

Answer 5

cleavage furrow

Question 6

carriers of this chromosome abnormality are not at increased risk for having abnormal children

Answer 6

paracentric inversions

Question 7

are duplications generally more severe than deletions

Answer 7

no

Question 8

majority of miscarriages are due to what anomoly

Answer 8

chromosomal disorders

Question 9

In turner syndrome, there are no

Answer 9

barr bodies

Question 10

imprinting disorders are ____ compared with AR conditions

Answer 10

rare

Question 11

what causes thymidine dimers?

Answer 11

UV light

Question 12

must all eukaryotic genes be spliced?

Answer 12

no

Question 13

what at the branch point within the intron attacks the 5’ end of the intron to form lariat

Answer 13

adenine neucleotide

Question 14

ribosomes are encoded on the

Answer 14

p arm of acrocentric chromosome

Question 15

diagnose microdeletions like Angelman, PGD, rapid prenatal diagnosis of sex, Down syndrom, and amplification of cancer genes

Answer 15

FISH

Question 16

SINEs and LINEs, repetitive elements

Answer 16

what genomes are mostly composed of

Question 17

both due to mutations of the 16th amino acidd of beta globulin

Answer 17

HbS and HbC

Question 18

patients with beta thalassemia have no symptoms at birth because

Answer 18

they have mostly fetal hemoglobin!

Question 19

carriers for beta thalassemia have increased percentage of HbA2 because

Answer 19

delta globin replaces beta globin

Question 20

are inborn errors of mitochondrial respiratory chain always maternally inherited?

Answer 20

No. (de novo?)

Question 21

Does ubiquination of MPF mediate cell cycle progression?

Answer 21

No.

Question 22

Does ubiquination and degradation of Cdks regulate them?

Answer 22

No.

Question 23

DNA fingerprints capitalize on variability in

Answer 23

number of tandem repeats in noncoding DNA

Question 24

motor mediated sliding of polar Mts away from eachother

Answer 24

drives elogation of spindle apparatus

Question 25

RNA polymerase II involved in

Answer 25

splicing of primary transcripts

Question 26

peptidyl tranferase involved in

Answer 26

elogation reaction in protein synthesis

Question 27

How many VNTRs to determine paternity?

Answer 27

ten to sixteen

Question 28

what is used to separate VNTRs in paternity tests?

Answer 28

gel electrophoresis

Question 29

WhichAPOE alleles would lead most likely to Alzheimers?

Answer 29

2 E4 alleles

Question 30

where do oocysts arrest following ovulation?

Answer 30

Metaphase II

Question 31

someforms of MODY

Answer 31

don't require insulin

Question 32

replicate during interphase, act as MT organizing center, DON'T attach to actin filaments to make mitotic spindle

Answer 32

centrisomes

Question 33

have little histone content, highly condensed DNA

Answer 33

mature sperm

Question 34

is ability to treat the disease a criteria for carrier screening?

Answer 34

No.

Question 35

increase sensitivity means increased false

Answer 35

positives

Question 36

in familial hypercholesterolia, the defect is in

Answer 36

hepatocytes

Question 37

PKU, MODY, OI exhibit

Answer 37

locus heterogeneity (CF does not)

Question 38

CpG islands allow binding of

Answer 38

MBPs

Question 39

do mutations/chromosome abnormalities that effect imprinting ever upregulate gene expression?

Answer 39

No.