21 terms

Biology 14

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hemophilia
An X-linked recessive disorder in which blood fails to clot properly, leading to excessive bleeding if injured.
sickle cell anemia
a genetic disorder that causes abnormal hemoglobin, resulting in some red blood cells assuming an abnormal sickle shape
cystic fibrosis
A genetic disorder that occurs in people with two copies of a certain recessive allele; characterized by an excessive secretion of mucus and consequent vulnerability to infection; fatal if untreated.
Huntington Disease
hereditary disorder marked by degenerative changes in the cerebrum leading to abrupt involuntary movements and mental deterioration
Kline Fellers Syndrome
male with an extra X
color blindness
a variety of disorders marked by inability to distinguish some or all colors
karyotype
A display of the chromosome pairs of a cell arranged by size and shape.
genotype
An organism's genetic makeup, or allele combinations.
phenotype
An organism's physical appearance, or visible traits.
Nondisjunction
Error in meiosis in which homologous chromosomes fail to separate.
Autosomes
Any chromosome that is not a sex chromosome
Y Chromosome
the sex chromosome found only in males. When paired with an X chromosome from the mother, it produces a male child.
Sex linked
An inheritance pattern in which traits are controlled by genes located on the X chromosome.
Trisomy 21
condition in which an individual has three number 21 chromosomes, resulting in Down syndrome
germ-cell mutations
in cells that form gametes
somatic cell mutations
body cells (not gametes)
human genes
22,000 genes in humans
6,000 in yeast
X chromosome inactivation
in females, one of two X chromosomes is inactivated
barr body
a visibly dense region in the nucleus where the excessive X chromosomes go; only in females
pedigree
family record that shows how a trait is inherited over several generations
Circle = female
Square = male
shaded = trait present
penetrance
the percentage of individuals that have a particular genotype and express the associated phenotype