HUMAN GENOME VOCAB ONLY

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

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

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

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

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

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

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

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

Picture that shows how genes are passed on from one generation tothe next in a family

pedigree

Chromosomes that don’t determine sex

autosomes

Another name for “dwarfism”

X and y chromosomes that determinewhether you are a male or female

Achondroplasia

Sex chromosomes

Mutations that produce changes in a single gene = ______________________

Mutations that produce changes in whole chromosomes = _____________________

KINDS OF MUTATIONS

GENE MUTATIONS

CHROMOSOMAL MUTATIONS

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

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

Piece of DNA is broken off and lost

Piece of DNA breaks off and reattaches to another

deletion

translocation

KINDS OF MUTATIONS

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