Chapter 4 Flashcards

Genes and Genetic Diseases

1
Q

which genetic disease is caused by an abnormal karyotype

a. down syndrome
b. huntington disease
c. phenylketonuria
d. neurofibromatosis

A

Down syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Down syndrome usually occurs because of

a. an abnormal x chromosome
b. nondisjunction by older ova
c. an autosomal dominant gene
d. an autosomal recessive gene

A

nondisjunction by older ova

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Cri-du-chat syndrome is an abnormality of chromosomal structure that involves

a. translocation
b. an inversion
c. duplication
d. deletion

A

deletion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Fragile X syndrome can affect intelligence and behavior in

a. males only
b. females only
c. both males and females
d. neither because affected fetuses are aborted

A

both males and females

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

If homologous chromosomes fail to separate during meiosis, the disorder is

a. polyploidy
b. aneuploidy
c. disjunction
d. nondisjunction

A

nondisjunction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

cystic fibrosis has been mapped to chromosome

a. 17
b. 7
c. X
d. 16

A

7

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

In autosomal dominant inherited disorders

a. affected individuals do not have an affected parent
b. affected individuals who mate with unaffected people have a 50% risk of having an affected offspring
c. male offspring are most often affected
d. unaffected children born to affected parents will have affected children

A

b. affected individuals who mate with unaffected people have a 50% risk of having an affected off spring

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

in x linked recessive inherited disorders

a. affected males have normal sons
b. affected males have affected daughters
c. sons of female carriers have a 50% risk of being affected
d. the affected male transmits the gene to all daughters thus they are carriers

A

affected males have normal sons
affected males have normal daughters
the affected male transmits the gene to all daughters, thus they are carriers.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

duchenne muscular dystrophy is

a. a sex linked genetic disease wherein dystrophin is not encoded
b. an autosomal recessive disease
c. an autosomal dominant disease
d. mapped to chromosome 17

A

a sex linked genetic disease wherein dystrophin is not encoded.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

if a male inherits an autosomal recessive disorder he inherited it from his

a. mother
b. father
c. mother & father

A

mother and father

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Trisomy 21 syndrome is caused by

a. paternal disjunction
b. maternal disjunction
c. maternal translocation

A

maternal nondisjunction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

recessive disorder

a. due to numerical or structural aberrations
b. individual homozygous for a gene
c. outward appearance of an individual

A

individual homozygous for a gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

genotype

a. expresses genes
b. outward appearance of an individual
c. gene combination

A

gene combination

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

aneuploidy

a. a cell with fewer or more chromosomes than normal
b. failure of homologous chromosomes to separate during meiosis or mitosis
c. individual homozygous for a gene

A

a cell with fewer or more chromosomes than normal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

chromosomal aberration

a. due to numerical or structural aberration
b. outward appearance of an individual
c. gene combination

A

due to numerical or structural aberration

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

phenotype:

a. expresses genes
b. gene combination
c. outward appearance of an individual

A

outward appearance of an individual

17
Q

pedigree

a. a probability of 0.25
b. expresses genes
c. a cell with fewer or more chromosomes than normal

A

expresses genes

18
Q

autosomal recessive inheritance

a. a probability of 0.25
b. extent of phenotypic variation of a particular genotype
c. females unlikely to be affected

A

a probability of 0.25

19
Q

expressivity

a. females unlikely to be affected
b. one allele permits expression
c. extent of phenotypic variation of a particular genotype

A

extent of phenotypic variation of a particular genotype

20
Q

x linked

a. one allele permits expression
b. females unlikely to be affected
c. no loss or gain of genetic material

A

females unlikely to be affected

21
Q

inversion

a. a probability of 0.25
b. expresses genes
c. no loss or gain of genetic material

A

no loss or gain of genetic material

22
Q

dominant trait

a. different version of the same paired gene
b. klinefelter syndrome
c. one allele permits expression

A

one allele permits expression

23
Q

allele

a. different version of the same paired gene
b. pedigree
c. phenotype

A

different version of the same paired gene

24
Q

47 XXY

a. down syndrome
b. klinefelter syndrome

A

klinefelter syndrome

25
Q

Karyotype

a. species chromosomal morphology
b. no loss or gain of genetic material
c. extent of phenotypic variation of a particular genotype

A

species chromosomal morphology