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Beyond Mendel, Sex Linkage, Human Genetics. Mendel studied only simple inheritance WELL-DEFINED, DOM/REC. Non-Mendelian Inheritance Patterns. Incomplete Dominance: INTERMEDIATE HET (Rr = PINK). Homework - perform P, F1, F2 crosses USING SNAPDRAGONS.
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Mendel studied only simple inheritance WELL-DEFINED, DOM/REC
Morgan, Flies, Sex Linkage - 1910sGenes Shown on Chromosomes
Sex Chromosomes (flies have 1 pair): GENDER DETERMINING, X AND Y
Wild Type: DOMINANT (e.g. RED EYES)Mutant: RECESSIVE (e.g. WHITE EYES)
At first, Morgan assumed eye color was autosomal/Mendelian: F1 = Rr, F2 = 3:1
But F2 was half unexpected: where all females red, MALES 50:50 RED:WHITE
Morgan formed a new hypothesis: GENE FOR EYE COLOR ONLY ON X
Rule Three: For sex linkage, show alleles on X’s (e.g. XR) - none on Y’s. Prediction must include gender. Use Mendelian letters for genes - not Morgan’s (+/-) naming system.
Let’s Show the P X P Cross to F1P Gametes: red/female X white/male
Let’s Show the P X P Cross to F1P Gametes: red/female X white/male
Let’s Show the F1 X F1 Cross to F2F1 Gametes: Het/Female X Red/Male
Let’s Show the F1 X F1 Cross to F2 F1 Gametes: het/female X red/male
Predictions: 50% RED FEMALES25% RED MALES; 25% WHITE MALESIs this consistent with observations?
Pedigree Analysis: MASTER ALL RULESMake sure you define shaded trait OR write phenotype below each person.
Sickle Cell Anemia • REC AUTOSOMAL - SOME INC DOM • African Americans - 1/400 • Carriers - 1/10 • Defective HEMOGLOBIN CHAIN • Hom/Rec = LETHAL; Het = WEAK Protects against tropical malaria - thus, selected among many equatorial races.
Cystic Fibrosis • REC AUTOSOMAL • European Caucasions - 1/2500 • Carriers - 1/24 • Defective Na/Cl TRANSPORTER • High levels of secreted SALT, MUCUS • If untreated, LETHAL BY AGE 5
Huntington Disease • DOM AUTOSOMAL • Unstable - EXPANDING MUTATION • 30,000 HAVE, 150,000 AT RISK • Gene function unclear • Degenerative BRAIN FUNCTION • No good treatment - LETHAL 35-45