1. Mutations & Diseases

2. Missing 1 chromosome LETHAL! Results from non- disjunction- _________________ _______________ Miscarriage Pg. 401

3. More than 2 copies of chromosome SURVIVABLE! Results from non- disjunction –___________________________ ___________________________ _____________- 3 copies of chromosome 3 chromosomes on #21: Results in __________ _____________ Non-disjunction Karyotype Pg. 401

4. Non-disjunction: Turner Syndrome & Klinefelter’s Syndrome Turner Syndrome –Missing an ___ ______________ –Labeled: ______ –Born with a webbed neck –Sterile- ______________ Klinefelter’s Syndrome –Extra ___ __________________ –Labeled: ________ –Occurs in ________ –Prevents individuals from ____________. Pg. 401

5. Other Mutations (pg. 374) Type of MutationDefinitionWhat it looks like compared Deletion Translocation Duplication Inversion Original: ABCDEFGH

6. DiseaseSymptomsDiagnosisCause Sickle Cell Anemia (pg. 398) Blood clots in ___________, pain, infections, damage to ________, _________, & ___________ Abnormal hemoglobin ________ shape 1 defective _________ Tay-sachs1. 2. 3 Eye exam- _______ ________ on back of retina Mutation on chromosome__ Huntington’s Disease (pg. 399) 1._________ _________ 2._________ _________ Does not appear until ___________ ___________ Protein found in _______ cells Duplication of _______ codon - More than ______ times!

7. DiseaseSymptomsDiagnosisCause Cystic Fibrosis (Pg. 399) Digestive problems Thick mucus that clogs ________ & ____________ ____________ High salt levels in sweat __________ of 3 bases CF allele is ___________ PKU________ skin, hair Intellectual ____________ Scanned at birth for phenylalanine levels Recessive trait

8. Genetic Counseling Genetic counselors help ________ risks of disorder, explain __________ _________, suggest testing, and lay out possible ___________. –Help the family cope with a positive result –Arrange prevention and screening measures where they deem it appropriate

9. Pre-natal Testing for Genetic Disorders: Cont’d Karyotype- arrange diploid set of chromosomes arranged in decreasing size Lay out chromosomes –Check for correct __ of xomes –Determine the ____of the baby Pg. 392-393

10. Pre-natal Testing for Genetic Disorders: Cont’d Ultrasound –Examine anatomical features of the fetus Amniocentesis –Needle into amniotic fluid –14-16 weeks Biochemical analysis –Enzymes & waste products

11. Pre-natal Testing for Genetic Disorders: Cont’d CVS (chorion villus sample) –Examine chromosomes within the chorion

12. Pre-natal Testing for Genetic Disorders Offspring have similar genetics to parents Family history- list of diseases of previous family members –8-10 weeks Pedigree- genetic chart based on family history

13. Square=maleCircle= female Vertical line & bracket connect parents to their children Unshaded indicates trait is not expressed (aa) Shaded indicates trait is expressed (could be AA or Aa) Horizontal line indicates relation Each row of shapes represents a generation Oldest generation toward top