Patho Ch 6 & 7 Genetics

Front 1

what are histones?

Back 1

Proteins that help to control the structure of DNA strands

Front 2

what is a codon?

Back 2

series of 3 bases found in mRNA

Front 3

describe RNA

Back 3

single stranded, contains the sugar ribose, and the base uracil

Front 4

describe tRNA

Back 4

smallest of RNAs, 20 different types, have sites for amino acids and mRNA codons

Front 5

how many amino acids does each
polypeptide contain?

Back 5

100-300

Front 6

errors in DNA specifically in the bases portion of the nucleotide

Back 6

mutations

Front 7

give an example of a poly-morphism that cannot be trasmitted to offspring

Back 7

having one brown eye and one blue eye

Front 8

Barr bodies

Back 8

an inactive X chromosome present in females and does not control genetic traits

Front 9

Results in two identical cells

Back 9

mitosis

Front 10

includes pairing of homologous chromosomes

Back 10

meiosis

Front 11

when does crossing over take place?

Back 11

during meiosis I

Front 12

The most common category of single gene disorder

Back 12

Autosomal dominant

Front 13

Autosomal Dominant disorders

Back 13

Marfan's syndrome
Neurofibromatosis
Osteogenesis imperfecta
Von Willebrand's

Front 14

Marfan's syndrome

Back 14

C.T. disorder-tall,eye lenses dislocate, contortionism, aortic aneurysms

Front 15

Neurofibromatosis

Back 15

skin disease

Front 16

osteogenesis imperfecta

Back 16

tendency to break bones

Front 17

Von Willebrand's

Back 17

Bleeding disorder, problem clotting

Front 18

Chromosomal disorders

Back 18

Down syndrome
Turner's syndrome

Front 19

Neurofibromatosis

Back 19

lesions arise from peripheral nerves and also presents with cafe au lait spots

Front 20

autosomal recessive disorders

Back 20

Cystic fibrosis
PKU
Sickle cell
Tay Sachs

Front 21

PKU

Back 21

leads to mental retardation

Front 22

Tay Sachs

Back 22

Hx A deficiency, leads to mental & physical deterioration

Front 23

why should pregnant women have folic acid?

Back 23

folic acid plays a large role in cell growth and development, as well as tissue formation

Front 24

X-linked disorders

Back 24

Hemophilia A & B
Fragile X syndrome
Duchenne dystrophy

Front 25

Duchenne dystrophy

Back 25

presents with muscle weakness, lordosis, a waddling gait and Gower's sign

Front 26

what is aneuploidy?

Back 26

an abnormal chromosome number in cells

Front 27

cause of Down Syndrome

Back 27

nondisjunction

Front 28

Children with down syndrome tend to have this

Back 28

mental retardation
smaller heads
larger tongues
> risk of leukemia
> risk of alzheimer's

Front 29

3 procedures used to determine Down syndrome in a fetus

Back 29

amniocentesis
chorionic villi sampling
percutaneous umbilical blood sampling

Front 30

Chromosomal disorder in which the female only has one X chromosome, with short stature

Back 30

Turner's syndrome

Front 31

a genetic disorder in which males have an extra X chromosome (47,XXY)

Back 31

Klinefelter's syndrome

Front 32

what are teratogens

Back 32

cancer-causing agents

Front 33

what is phocomelia and which teratogen causes it?

Back 33

caused by thalidomide
phocomelia-extremities don't develop normally

Front 34

FDA class of drugs that are known teratogens and harm the fetus

Back 34

class X