Chapter 4 Flashcards
Genes and Genetic Diseases
which genetic disease is caused by an abnormal karyotype
a. down syndrome
b. huntington disease
c. phenylketonuria
d. neurofibromatosis
Down syndrome
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
nondisjunction by older ova
Cri-du-chat syndrome is an abnormality of chromosomal structure that involves
a. translocation
b. an inversion
c. duplication
d. deletion
deletion
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
both males and females
If homologous chromosomes fail to separate during meiosis, the disorder is
a. polyploidy
b. aneuploidy
c. disjunction
d. nondisjunction
nondisjunction
cystic fibrosis has been mapped to chromosome
a. 17
b. 7
c. X
d. 16
7
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
b. affected individuals who mate with unaffected people have a 50% risk of having an affected off spring
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
affected males have normal sons
affected males have normal daughters
the affected male transmits the gene to all daughters, thus they are carriers.
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 sex linked genetic disease wherein dystrophin is not encoded.
if a male inherits an autosomal recessive disorder he inherited it from his
a. mother
b. father
c. mother & father
mother and father
Trisomy 21 syndrome is caused by
a. paternal disjunction
b. maternal disjunction
c. maternal translocation
maternal nondisjunction
recessive disorder
a. due to numerical or structural aberrations
b. individual homozygous for a gene
c. outward appearance of an individual
individual homozygous for a gene
genotype
a. expresses genes
b. outward appearance of an individual
c. gene combination
gene combination
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 cell with fewer or more chromosomes than normal
chromosomal aberration
a. due to numerical or structural aberration
b. outward appearance of an individual
c. gene combination
due to numerical or structural aberration
phenotype:
a. expresses genes
b. gene combination
c. outward appearance of an individual
outward appearance of an individual
pedigree
a. a probability of 0.25
b. expresses genes
c. a cell with fewer or more chromosomes than normal
expresses genes
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 probability of 0.25
expressivity
a. females unlikely to be affected
b. one allele permits expression
c. extent of phenotypic variation of a particular genotype
extent of phenotypic variation of a particular genotype
x linked
a. one allele permits expression
b. females unlikely to be affected
c. no loss or gain of genetic material
females unlikely to be affected
inversion
a. a probability of 0.25
b. expresses genes
c. no loss or gain of genetic material
no loss or gain of genetic material
dominant trait
a. different version of the same paired gene
b. klinefelter syndrome
c. one allele permits expression
one allele permits expression
allele
a. different version of the same paired gene
b. pedigree
c. phenotype
different version of the same paired gene
47 XXY
a. down syndrome
b. klinefelter syndrome
klinefelter syndrome
Karyotype
a. species chromosomal morphology
b. no loss or gain of genetic material
c. extent of phenotypic variation of a particular genotype
species chromosomal morphology