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