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36 Cards in this Set

  • Front
  • Back
amniocentesis
a procedure used in fetal diagnosis in which fetal cells are
removed from the amniotic fluid
carrier
individuals that have one copy of a recessive autosomal allele
chromosome map
a diagram of allele positions on a chromosome
colorblindness
a recessive X-linked disorder in which an individual cannot
distinguish between certain colors
deletion
a mutation in which a segment of DNA breaks off of a
chromosome
Down syndrome
a disorder caused by an extra twenty-first chromosome and
characterized by a number of physical and mental abnormalities
Duchenne muscular dystrophy
a form of muscular dystrophy that weakens
and progressively destroys muscle tissue
frame shift mutation
a mutation that results in the misreading of the code
during translation because of a change in the reading frame
genetic counseling
the process of informing a couple about their genetic
makeup, which has the potential to affect their offspring
genetic disorder
a disease that has a genetic basis
genetic marker
a short section of DNA that indicates the presence of an allele
that codes for a trait
genetic screening
an examination of a person’s genetic makeup
germ cell mutation
a change in the DNA of a sex cell
hemophilia
a trait in which the blood lacks a protein that is essential for
clotting
Huntington’s disease
a human genetic disorder caused by a dominant allele
resulting in involuntary movements, mental deterioration, and eventual
death
inversion
a mutation that occurs when a chromosome piece breaks off and
reattaches in reverse orientation
lethal mutation
genetic mutation that lead to death, often before birth
linkage group
the group of genes, located on the same chromosome, that are
usually inherited together
map unit
a unit in chromosome mapping equal to a 1 percent occurrence of
crossing-over
monosomy
a condition in a diploid cell in which one chromosome of one pair
is missing as a result of nondisjunction during meiosis
multiple allele trait
traits that are controlled by three or more alleles of the
same gene that code for a single trait
nondisjunction
the failure of homologous chromosomes to separate during
meiosis or the failure of sister chromatids to separate during mitosis
pedigree
a diagram of the genetic history of an individual; can show how a trait
is inherited over several generations
phenylketonuria (PKU)
a genetic disorder in which the body cannot
metabolize phenylalanine
point mutation
the change of a single nitrogen-containing base within a
codon
polygenic trait
a trait controlled by multiple genes
sex-influenced trait
a trait that is influenced by the presence of male or female
sex hormones
sex-linkage
the presence of a gene on a sex chromosome
single-allele trait
a trait controlled by a single allele
somatic mutation
a mutation that occurs in a body cell
substitution
a point mutation in which one nucleotide in a codon is replaced
with a different nucleotide
translocation
a mutation in which a broken piece of chromosome attaches to a
nonhomologous chromosome; movement of organic molecules in plant
tissues
trisomy
a chromosomal anomaly in which an individual has an extra
chromosome in any of the chromosome pairs
trisomy-21
a human congenital disorder caused by trisomy of chromosome 21
due to the failure of the sister chromatids to separate during mitosis or the
failure of homologous chromosomes to separate during meiosis (see Down
syndrome)
X-linked gene
a gene found on the X chromosome
Y-linked gene
a gene found on the Y chromosome