Lecture 18: Human Genetics

Question 1

Mendelian Pattern

Answer 1

involves dominant and recessive alleles

Question 2

Autosomal recessive

Answer 2

needs two copies of mutated gene, one from each parent, to develop disease

Question 3

Autosomal dominant

Answer 3

only needs one copy of mutated gene to cause disease

Question 4

aneuploidy

Answer 4

the occurrence of one or more extra or missing chromsomes

Question 5

monosomy

Answer 5

only one chromosomes from a pair instead of the usual two; missing a chromosome

Question 6

trisomy

Answer 6

have an extra copy of a chromsome; ex: down syndrome

Question 7

nondisjunction

Answer 7

causes aneuploidy; failure of chromosomes to separate properly during cell division

Question 8

X-linkage for boys

Answer 8

only need one X-linked trait to show disease because there is only one x–>X*Y

Question 9

X-linkage for girls

Answer 9

need two X-linked traits to show disease because there are two X’s–>XX

Question 10

changes in chromosome number

Answer 10

deletion, insertion, translocation, and inversion

Question 11

translocation

Answer 11

a piece moves from one chromosome to another; crossing over with the wrong chromosome

Question 12

inversion

Answer 12

flips order, but doesn’t actually change the location

Question 13

inprinting

Answer 13

has to do with which parent the allele comes from and what allele it is; parent specific; due to methylation

Question 14

pedigree

Answer 14

family tree that shows inheritance pattern over several generations

Question 15

why can’t we do experiments on humans?

Answer 15

few offspring per person and long generation times

Question 16

Turner Syndrome

Answer 16

44 autosomes and 1 X chromosome, XO

Question 17

Klinefelter Syndrome

Answer 17

44 autosomes, 2 X chromosomes, 1 Y chromosome, XXY