genes

Question 1

what is a gene

Answer 1

basic unit of inheritance transferred from parent to offspring

Question 2

what is a gene composed of

Answer 2

DNA

Question 3

where is a gene located

Answer 3

on chromosome

Question 4

what do genetics traits determine

Answer 4

individual eye color, blood type, & predisposition to
certain diseases such as Sickle Cell Anemia, Hemophilia, & certain cancers

Question 5

what are some diseases that are predisposition by genetic traits

Answer 5

Sickle Cell Anemia, Hemophilia, & certain cancers

Question 6

what is a mutation

Answer 6

an inherited alteration of genetic material (chromosome aberration in
number or structure)

Question 7

what can also cause a mutation by inheritance

Answer 7

exposure to certain mutagens such
as radiation

Question 8

describe expressivity

Answer 8

People can be affected by a genetic disease/disorder but manifest different
degrees of the disease some more severe than others

Question 9

define epidemiology

Answer 9

study of the “ distribution and determinants ” of diseases or disorders within groups of people, and the development of knowledge on how to prevent and control them

Question 10

define prevalence

Answer 10

The proportion of individuals in a population having a disease or characteristic at a given time

Question 11

define incidence

Answer 11

measure of the number of new cases of a characteristic that develop in a population in a specified time period

Question 12

how many pairs does chromosomes have

Answer 12

23 pairs (first 22 pairs are autosomal and one pair of sex chromosomes

Question 13

what are the chromosomes of a female

Answer 13

2 X chromosomes

Question 14

what are the chromosomes of a male

Answer 14

1 X and 1 Y chromosome

Question 15

how many births have a major diagnosable chromosome abnormality

Answer 15

1/150

Question 16

chromosome abnormality is the leading cause of what

Answer 16

mental retardation and miscarriages

Question 17

what is the most well known chromosome abnormality

Answer 17

Down syndrome (Trisomy 21)

Question 18

describe the ears of a person with down syndrome

Answer 18

low set
ears

Question 19

describe the tongue of a person with down syndrome

Answer 19

protruding tongue

Question 20

describe the nose of a person with down syndrome

Answer 20

low nasal bridge

Question 21

describe the mental status of a person with down syndrome

Answer 21

mental retardation

Question 22

describe the heart condition of a person with down syndrome

Answer 22

congenital
heart defect

Question 23

what is the greatest risk factor in the development of down syndrome

Answer 23

increased maternal age
>35

Question 24

define trisomy

Answer 24

type of aneuploidy

Question 25

define aneuploidy

Answer 25

a cell that contains an abnormal # of
chromosomes (3 copies of one chromosome)

Question 26

why is down syndrome (trisomy21) an aneuploidy

Answer 26

3 copies of chromosome 21