HUMAN GENOME VOCAB ONLY

1. HUMAN GENOME VOCAB ONLY

2. 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 present causing 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

3. 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

4. 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 dystrophyColorblindness Hemophilia

5. What disorder is it? Phenylketonuria (PKU) 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 causes blindness, retardation, early death __________________________ A autosomal Dominant disorder (There is more than one right answer here) __________________ Klinefelter syndrome Tay-Sach’s Huntington’s OR Achondroplasia

6. 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

7. SOMATIC A body cell is also called a ______________ cell. ______________ mutations cause deathoften before birth. Twins that come from one sperm and egg are called _____________ LETHAL MONOZYGOTICor maternal

8. Dark spot in the nucleus made when one of the X chromosomes in females is inactivated BARR BODY When homologous chromosomes don’t separate during meiosis it is called _________________ nondisjunction

9. 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

10. 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

11. Another name for “dwarfism” X and y chromosomes that determinewhether you are a male or female Achondroplasia Sex chromosomes

12. Mutations that produce changes in a single gene = ______________________ Mutations that produce changes in whole chromosomes = _____________________ GENE MUTATIONS KINDS OF MUTATIONS CHROMOSOMAL MUTATIONS

13. KINDS OF 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

14. 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

15. KINDS OF MUTATIONS Piece of DNA is broken off and lost Piece of DNA breaks off and reattaches to another deletion translocation

16. 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 duplication