Ch5-Genetics

Ch5-Genetics - GENETIC DISORDERS DISORDERS DISEASES GENETIC...

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GENETIC GENETIC DISORDERS DISORDERS
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DISEASES GENETIC ENVIRONMENTAL BOTH
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MUTATIONS PERMANENT change in DNA GENOME MUTATION: (whole chromosome) CHROMOSOME MUTATION: (visible chromosome change) GENE MUTATION: (may, and often, result in a single base error)
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GENE MUTATION DELETION OF A SINGLE BASE SUBSTITUTION OF A SINGLE BASE
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POINT MUTATION
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GENE MUTATION POINT MUTATION within a coding sequence: VAL-GLU MUTATIONS in NON-coding sequences defective transcription, regulation DELETIONS/INSERTIONS frameshift mutation, involvement is NOT a multiple of 3 Tri-nucleotide REPEATS , e.g., CGG repeats many times in fragile X
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GENE MUTATIONS INTERFERE with protein synthesis SUPPRESS transcription, DNA RNA PRODUCE abnormal mRNA DEFECTS carried over into TRANSLATION ABNORMAL proteins WITHOUT impairing syntheses
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GENETIC DISORDERS SINGLE gene mutations, following classical MENDELIAN inheritance patterns the most MULTIFACTORIAL inheritance CHROMOSOMAL disorders
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MENDELIAN inheritance patterns AUTOSOMAL DOMINANT AUTOSOMAL RECESSIVE SEX-LINKED (recessive), involving “X” chromosome
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AUTOSOMAL DOMINANT Disease is in HETEROZYGOTES NEITHER parent may have the disease (NEW mut.) REDUCED PENETRANCE (env?, other genes?) VARIABLE EXPRESSIVITY (env?, other genes?) May have a DELAYED ONSET Usually result in a REDUCED PRODUCTION or INACTIVE protein
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AUTOSOMAL DOMINANT HUNTINGTON DISEASE NEUROFIBROMATOSIS MYOTONIC DYSTROPHY TUBEROUS SCLEROSIS POLYCYSTIC KIDNEY HEREDITARY SPHEROCYTOSIS VON WILLEBRAND DISEASE MARFAN SYNDROME EHLERS-DANLOS SYNDROMES(some) OSTEOGENESIS IMPERFECTA ACHONDROPLASIA FAMILIAL HYPERCHOLESTEROLEMIA ACUTE INTERMITTENT PORPHYRIA
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AUTOSOMAL DOMINANT PEDIGREE 1) BOTH SEXES INVOLVED 2) GENERATIONS NOT SKIPPED
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AUTOSOMAL RECESSIVE Disease is in HOMOZYGOTES More UNIFORM expression than AD Often COMPLETE PENETRANCE Onset usually EARLY in life NEW mutations rarely detected clinically Proteins show LOSS of FUNCTION Include ALL inborn errors of metabolism MUCH more common that autosomal dominant
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RECESSIVE CF PKU GALACTOSEMIA HOMOCYSTINURIA LYSOSOMAL STORAGE Α-1 ANTITRYPSIN WILSON DISEASE HEMOCHROMATOSIS GLYCOGEN STORAGE DISEASES Hgb S THALASSEMIAS CONG. ADRENAL HYPERPLASIA EHLERS-DANLOS (some) ALKAPTONURIA NEUROGENIC MUSC. ATROPHIES
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This note was uploaded on 01/25/2012 for the course PDBIO 305 taught by Professor Woods,a during the Fall '08 term at BYU.

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Ch5-Genetics - GENETIC DISORDERS DISORDERS DISEASES GENETIC...

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