Chapter 14: Molecular and Genetic Epidemiology

Question 1

What is a genetic code?

Answer 1

the blueprint of instructions coded in DNA to make our body. passed from parents to children and are recorded using A,C, G, T

Question 2

ACGT?

Answer 2

They are codons

• adenine
• cytosine
• guanine
• thymine

Question 3

How many chromosomes should every person have?

Answer 3

23 pairs; 46 in total

Question 4

What are amino acids? How many do we each have?

Answer 4

the building blocks of protein; 20

Question 5

What is a gene?

Answer 5

the particular segment of a DNA molecule on a chromosome that determines the nature of an inherited trait

Question 6

What is an allele?

Answer 6

one of two or more alternative forms of a gene that occurs at the same locus/place on a chromosome
-allele: alternate

Question 7

What is the genotype?

Answer 7

refers to the genetic construction; physical traits, etc.

Question 8

Phenotype?

Answer 8

realized expression of the genotype, or the observable

physical appearance or functional expression of a gene

Question 9

Mendelian inheritance?

Answer 9

denotes the transmission of a disease or trait from parents to offspring according to simple laws of inheritance. inspection of the pattern of disease in families is sufficient to indicate that the disease is being passed from generation to generation as a result of a single gene defect, and thus a monogenic trait

Question 10

genetic epidemiology?

Answer 10

discipline that seeks to unravel the role of genetic factors and their interactions with environmental factors in the etiology of diseases

Question 11

molecular epidemiology?

Answer 11

denotes the use of biomarkers and genetic factors to
establish exposure–disease associations. has the possibility of providing early warnings for disease by flagging preclinical effects of exposure. broader than GE. includes a wide variety of biologic measures of exposure and disease

Question 12

Difference between GE and ME?

Answer 12

• GE is concerned with inherited factors that influence risk of disease.
• ME uses molecular markers (in addition to genes) to establish exposure–disease associations

Question 13

What is a proband?

Answer 13

the individual in a family who brings a disease of interest to the attention of the investigator

Question 14

autosomal dominant?

Answer 14

only a single copy of an altered gene located on a
nonsex chromosome (an autosome) is sufficient to
increase risk of disease

Question 15

autosomal recessive diseases?

Answer 15

2 copies of an altered gene are required to increase the risk of disease, 1 inherited from the mother and father

Question 16

What is a haplotype?

Answer 16

combination of DNA markers along the chromosome