3.5 Human Genetic Disorders

Question 1

Polymorphisms

Answer 1

Genetic changes that occur in more than one percent of the population

Question 2

Nondisjunction errors

Answer 2

Homologous chromosomes or sister chromatids fail to separate during meiosis

Question 3

Aneuploid

Answer 3

Cell has atypical number of chromosomes

Question 4

Trisomy

Answer 4

Cells having three sets of chromosomes.

Question 5

monosomy

Answer 5

Cell having one set of chromosomes

Question 6

Disomy

Answer 6

Cell having two sets of chromosomes

Question 7

Trisomy 21

Answer 7

Down syndrome

Question 8

De novo mutations

Answer 8

Occurring in the germ cell right after the formation of the zygote. Child can have a mutation with no history of the mutation or resulting disorder in their parents or ancestors.

Question 9

Mosaicism

Answer 9

Type of mutation that occurs early in the embryo’s development and results in two forms of DNA existing in the cells of the body

Question 10

Karyotype

Answer 10

An organized profile of an organism’s chromosomes

Portrays the number, relative size, shape, and appearance of the chromosomes

Question 11

Karyogram

Answer 11

Image ofchromosomes arranged by size and other characteristics

Question 12

Euploid

Answer 12

An organism with the appropriate number of chromosomes for the species

Question 13

Turner syndrome

Answer 13

Person only has one copy of the X chromosome often. Often causes infertility due to lack of ovarian function, short stature, skeletal abnormalities, heart defects, and kidney problems

Question 14

Klinefelter syndrome

Answer 14

Person having two copies of the X chromosome + one Y chromosome. Causes infertility, abnormal body proportions, tall stature, less facial hair, and small male reproductive organs

Question 15

Barr body

Answer 15

Inactivated x chromosome

Question 16

Multifactorial traits

Answer 16

Or complex traits

Give rise to a variety of phenotypes because of gene interactions between genes and their environment

Question 17

Pedigree

Answer 17

A family tree showing which family members have the genes for a certain trait

Question 18

Pedigree shapes and shading

Answer 18

Female: circle

Male: square

Affected: completely shaded

Unaffected: no shading

Carrier: half shaded

Question 19

Percentage of the human genome that codes for proteins

Answer 19

2%

Question 20

Selective breeding

Answer 20

Breeding organisms to create offspring with desired characteristics

Question 21

Inbreeding

Answer 21

Type of selective breeding in which individuals with similar characteristics continue to be bred to keep a certain set of traits

Probability of mutated alleles leading to disorders is high

Question 22

Genetic modification

Answer 22

Changing a specific trait without affecting the rest of the organisms genome