Genes, Chromosomes, and Human Genetics

Question 1

what is progeria?

Answer 1

a genetic disease that causes premature aging

Question 2

who did we talk about in class that has progeria

Answer 2

Mickey Hayes and Fransie Geringer

Question 3

what is the error that causes progeria

Answer 3

the gene for lamin A

Question 4

How old do children with progeria die from old age at?

Answer 4

on average 13 years old

Question 5

What is Lamin Protein?

Answer 5

protein that reinforces the inner surface of the nuclear envelope

Question 6

what is another name for progeria?

Answer 6

Hutchinson-Gilford Syndrome

Question 7

Who first cultivated Drosophila melanogaster (the fruit fly)

Answer 7

Thomas Hunt

Question 8

in the first fruit fly testcross offspring, what was found?

Answer 8

a high number of parental phenotypes and low number of recombinant phenotypes

Question 9

what is genetic recombination

Answer 9

crossing over during meiosis prophase I

Question 10

how is the frequency of genetic recombination determined

Answer 10

by the distance between linked genes

Question 11

what is recombination frequency

Answer 11

the percentage of testcross progeny that are recombinants

Question 12

what is the formula for recombination frequency

Answer 12

of recombinants/total # of progeny times 100

Question 13

what is the progeny

Answer 13

parentals + recombinants

Question 14

what is a linkage map

Answer 14

shows the relative locations of genes

Question 15

a map unit (mu) is equivalent to a recombination frequency of 1% (T/F)

Answer 15

true

Question 16

mode of inheritance indicates what

Answer 16

the patterns with which the mutant phenotype is associated

Question 17

what are the modes of inheritance in order of commonality

Answer 17

1. autosomal recessive
2. autosomal dominant
3. X-linked recessive
4. X-linked dominant
   5.Y-linked
   6.mitochondiral

Question 18

how many pairs of autosomes does the typical human have

Answer 18

22 pairs (and 1 pair of sex chromosome)

Question 19

human traits are controlled by how many genes? what do they exhibit?

Answer 19

one gene: dominant/recessive inheritance

Question 20

what does pedigree anaylsis track

Answer 20

inheritance patterns in families

Question 21

dominant pedigree skips generations (T/F)

Answer 21

false- appears in every generation

Question 22

what is juvenile glaucoma? is in dominant or recessive pedigree?

Answer 22

degeneration of optic nerve leading to blindness
dominant

Question 23

what is albinism? is it recessive or dominant?

Answer 23

lack of melanin pigmentation, recessive

Question 24

what is alkaptonuria? is it recessive or dominant?

Answer 24

inability to metabolize homogentisic acid
recessive

Question 25

what is red-green color blindness? is it recessive or dominant?

Answer 25

inability to distinguis red or green wavelengths of light
recessive

Question 26

what is cystic fibrosis? is it recessive or dominant?

Answer 26

abnormal gland secretion, leading to liver degeneration and lung failure.
recessive

Question 27

what is duchenne muscular dystrophy (DND)? is it recessive or dominant?

Answer 27

wasting away of muscles during childhood
recessive

Question 28

what is hemophilia?is it recessive or dominant?

Answer 28

inability of blood to clot properly, delayed clotting
recessive

Question 29

what is sickle cell anemia is it recessive or dominant?

Answer 29

defective hemoglobin that causes red blood cells to curve and stick together
recessive

Question 30

how long does it normally take for blood to clot?

Answer 30

10-13 seconds

Question 31

what is polydactyly? is it recessive or dominant?

Answer 31

extra fingers/toes
dominant

Question 32

what is hypercholesterolemia? is it recessive or dominant?

Answer 32

elevated levels of blood cholesterol and risk of heart attack
dominant

Question 33

what is camptodactyly? is it recessive or dominant?

Answer 33

inability to straighten the little finger
dominant

Question 34

what is huntington disease? is it recessive or dominant?

Answer 34

degeneration of nervous system in middle age
dominant

Question 35

what is brachydactyly? is it recessive or dominant?

Answer 35

short fingers
dominant

Question 36

what is middigital hair? is it recessive or dominant?

Answer 36

presence of hair on middle segment of fingers
dominant

Question 37

where are human autosomal traits located?

Answer 37

on the non sex chromosomes (1-22)

Question 38

in autosomal doinant inheritance, what exhibits the affected phenotype

Answer 38

heterozygotes

Question 39

males and females are equally affected and can transmit the trait in autosomal dominant inheritance (T/F)

Answer 39

true

Question 40

in autosomal recessive inheritance, heterozygotes do what

Answer 40

carry the recessive allele, but do not exhibit the affected phenotype

Question 41

males and females are unequally affected in autosomal recessive inheritance and may transmit the trait (T/F)

Answer 41

false- equally affected

Question 42

autosomal recessive inheritance does or does not skip generations?

Answer 42

does skip generations