Genes and Genetic Disease

Question 1

Allele

Answer 1

Different version of a paired gene

Question 2

Mutagen

Answer 2

Substance that alters genetic material (DNA)

Question 3

Autosome

Answer 3

Chromosome that is not a sex chromosome

Question 4

Gene

Answer 4

Segment of DNA that is the basic unit of inheritance

Question 5

Codon

Answer 5

Sequence of three nitrogenous bases that specifies a particular amino acid

Question 6

Intron

Answer 6

Noncoding segment spliced out of mRNA

Question 7

Mutation

Answer 7

Alteration of DNA capable of being passed to offspring

Question 8

Exon

Answer 8

Segment of mRNA that codes for proteins

Question 9

Chromosome

Answer 9

Strand of condensed chromatin visible right before cell division

Question 10

Karotype

Answer 10

A display of chromosomes ordered according to length and centromere location

Question 11

A ________ cell has ___ pairs of chromosomes

Answer 11

23

Question 12

Frame shift mutation of DNA

Answer 12

Involves addition or deletion of a number of base pairs that is not a multiple of three and thus alters all of the codons downstream from the site of insertion or deletion

Question 13

A ________ gene will be expressed only if it is present in two copies

Answer 13

Recessive

Question 14

People with Down’s Syndrome have high risk for developing ___________ disease because of involvement of chromosome 21

Answer 14

Alzheimer

Question 15

Persons who have the 47,XXY karyotype have _______

Answer 15

Klinefelter syndrome

Question 16

Translocation

Answer 16

Interchanging of genetic material between nonhomologous chromosomes

Question 17

Difference between heterozygous and homozygous

Answer 17

Heterozygous means that the two genes at the same locus on both chromosomes are not identical, but homozygous means that the two genes are identical

Question 18

Difference between monosomy and trisomy

Answer 18

Monosomy means that one of the chromosomes in somatic cells has only one copy instead of the normal two copies but trisomy means that one of the chromosomes in somatic cells have three copies

Question 19

Difference between genotype and phenotype

Answer 19

A genotype is an individual’s genetic makeup, but a phenotype is the outward appearance of an individual

Question 20

Difference between mitosis and meiosis

Answer 20

In mitosis, a diploid cell makes a copy of itself, but in meiosis, a haploid cell is created from a diploid

Question 21

Synthesis of a protein

Answer 21

RNA polymerase binds to DNA promoter region
Transcription
mRNA is spliced to remove noncoding sections
mRNA leaves the nucleus
Translation

Question 22

What type of genetic disorder is Huntington Disease

Answer 22

Single-gene disorder

Question 23

What type of gene disorder is Turner Syndrome

Answer 23

Chromosomal Disorder

Question 24

What type of gene disorder is Down Syndrome

Answer 24

Chromosomal Disorder

Question 25

What type of gene disorder is Fragile X syndrome

Answer 25

Chromosomal Disorder

Question 26

What type of gene disorder is Cystic Fibrosis

Answer 26

Single-gene Disorder

Question 27

What type of gene disorder is Klinefelter syndrome

Answer 27

Chromosomal Disorder

Question 28

What type of gene disorder is Duchenne muscular Distrophy

Answer 28

Single-gene Disorder

Question 29

Diploid Cell

Answer 29

A somatic cell that has 46 chromosomes in its nucleus

Question 30

Genetic diseases caused by __________ usually are autosomal dominant, autosomal recessive, or X-lined recessive

Answer 30

Single genes

Question 31

X-linked recessive diseases are seen much more often in _____ than in _____

Answer 31

males, females

Question 32

The structure of _____ is a double helix

Answer 32

DNA

Question 33

Proteins are made of a sequence of

Answer 33

amino acids

Question 34

If cells have three copies of each chromosome, ______ is present

Answer 34

Triploidy

Question 35

______ of chromosomal material has more serious consequences than ________ of chromosomal material

Answer 35

Loss, duplication

Question 36

Barr body

Answer 36

An inactivated X chromosome that is seen in normal female cells

Question 37

Haploid Cell

Answer 37

A cell that has only 23 chromosomes; a gamete (sperm or egg)

Question 38

Homologous chromosomes

Answer 38

A pair of identical chromosomes

Question 39

Polyploidy

Answer 39

Condition in which cells have more than two copies of each chromosome

Question 40

Nondisjunction

Answer 40

An error during meiosis or mitosis in which homologous chromosomes or sister chromatids fail to separate normally

Question 41

Carrier

Answer 41

An individual who has a disease-causing allele but is phenotypically normal, often because the allele is recessive and the individual is a heterozygote