Transcript Vocab only - local.brookings.k12.sd.us

HUMAN GENOME
VOCAB ONLY
What disorder is it?
Mutation in the blood clotting protein makes
Hemophilia
person unable to stop bleeding after an injury _______________
Mutation in hemoglobin causes red blood
Sickle cell anemia
cells to change shape and ____________________
clog up blood vessels
Phenylketonuria (PKU)
Mutation causes mental retardation
if foods containing phenylalanine are eaten _____________________
Three #21 chromosomes are present
causing mental retardation
Down syndrome
_______________________
Mutation in ion channel protein causes
thick mucous to clog up lungs and
Cystic fibrosis
digestive organs
_______________________
This organized picture of
an individual’s
chromosomes is called
karyotype
a _________________
A person who has a copy of the gene for a
recessive disorder but doesn’t show any signs
carrier
of the sickness is called a _________________
What disorder is it?
Gradual deterioration of the brain
Huntington’s
that appears during middle age ____________________
Progressive weakening of muscle
proteins resulting in inability to walk
Muscular dystrophy
and eventually death
_________________________
Inability to distinguish between
Colorblindness
the colors red and green _____________________
Only one X and no y chromosome
Turner syndrome
____________________
An X linked disorder
(There is more than one right answer here) __________________
Muscular dystrophy
Colorblindness
Hemophilia
What disorder is it?
Phenylketonuria (PKU)
Inability to break down phenylalanine ____________________
eating food containing this amino acid
causes mental retardation
Klinefelter syndrome
Males with an extra X chromosome ______________________
(XXY) karyotype; some female features;
infertility
Build up of lipids in brain causes
Tay-Sach’s
blindness, retardation, early death __________________________
A autosomal Dominant disorder
(There is more than one right answer here) __________________
Huntington’s OR
Achondroplasia
The cell that forms when an egg and a
sperm join together is called a
zygote
_______________
Twins with different DNA that come
from 2 different egg and sperm are
called
Dizygotic or fraternal
SOMATIC
A body cell is also called a ______________
cell.
LETHAL
______________
mutations cause death
often before birth.
Twins that come from one sperm
MONOZYGOTIC
and egg are called _____________
or maternal
Dark spot in the nucleus made when one
of the X chromosomes in females is
inactivated
BARR BODY
When homologous chromosomes don’t separate
nondisjunction
during meiosis it is called _________________
A gene that is carried on the X
chromosome is called ____________
X-linked
GERM
A _________
cell mutation happens in
sperm or egg cells.
Twins which don’t separate entirely
and remain attached by some body
conjoined
part are called ______________
Picture that shows how
genes are passed on
from one generation to
the next in a family
pedigree
Chromosomes that don’t determine sex
autosomes
Another name for “dwarfism”
Achondroplasia
X and y chromosomes that determine
whether you are a male or female
Sex chromosomes
KINDS OF MUTATIONS
Mutations that produce changes in a single
GENE MUTATIONS
gene = ______________________
Mutations that produce changes in whole
chromosomes =
CHROMOSOMAL MUTATIONS
_____________________
KINDS OF MUTATIONS
Change in one or just a few nucleotide in
the code
Point mutation
Deletion or insertion that causes the
remaining nucleotides to be regrouped &
read incorrectly
Frameshift mutation
KINDS OF MUTATIONS
One nucleotide in code is replaced by
another
substitution
Complete set of chromosomes fails to
separate resulting in 3N or 4N
organisms
polyploidy
KINDS OF MUTATIONS
Piece of DNA is broken off and lost
deletion
Piece of DNA breaks off and
reattaches to another
translocation
KINDS OF MUTATIONS
Piece of DNA breaks off, flips, and
reattaches so that it reads
backwards
inversion
Piece of DNA is added to the code
insertion
Extra copies of part of a chromosome
are made
duplication