Genetic Disorders PPT

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Galactosemia • Rare genetic disorder • 2 recessive genes • Too much galactose in blood due to missing enzyme that converts galactose to glucose • Accumulation is a poison to body and can cause Kidney failure, cataracts, brain damage, enlarged liver 2/11/2011 38
Galactosemia (con’d) • Diagnosis during 1 st week of life by blood test • Strict exclusion of lactose/galactose from diet 2/11/2011 39
Page 1 and 2: Genetic Disorders 2/11/2011 1 http:
Page 3 and 4: What alleles are most often affecte
Page 5 and 6: Genetic disorders caused by dominan
Page 7 and 8: PKU cause • Recessive disorder
Page 9 and 10: Treatment • PKU test performed on
Page 11 and 12: Cystic fibrosis (CF) • Autosomal
Page 13 and 14: CF result • Accumulation of mucus
Page 15 and 16: Tay-Sachs Disease • Autosomal Rec
Page 17 and 18: Tay-Sachs Disease Cont’d • Slow
Page 19 and 20: Huntington’s Disease • Neurolog
Page 21 and 22: Genetic disorders caused by sex-lin
Page 23 and 24: Causes • 1) Error in cell divisio
Page 25: How are unusual #’s of chromosome
Page 28 and 29: Results of abnormal # of chromosome
Page 30 and 31: Characteristics • Mental retardat
Page 32 and 33: Turner syndrome XO • Females •
Page 34 and 35: Klinefelter’s syndrome XXY 2/11/2
Page 36 and 37: Diabetes (con’d) • Genetic pred
Page 40 and 41: Genetic Counseling • 1) Determine
Page 42: Amniocentesis needle inserted into

Genetic Disorders PPT

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