BIOCHEMISTRYANDMOLECULARBIOLOGY2.GeneticDiseases:Genetic Diseases:The molecular defects of inherited diseases range fromthe conceptually simple- a point mutation in DNAcausing the incorporation of an incorrect amino acid intoa protein- to errors in chromosome movement andtranscription that are complex and poorly understoodDepartment of Biochemistry and Molecular Biology,Medicine School
Department of Biochemistry and Molecular Biology, Medicine School BIOCHEMISTRY AND MOLECULAR BIOLOGY 2. Genetic Diseases: The molecular defects of inherited diseases range from the conceptually simple- a point mutation in DNA causing the incorporation of an incorrect amino acid into a protein- to errors in chromosome movement and transcription that are complex and poorly understood. Genetic Diseases:
BIOCHEMISTRYANDMOLECULARBIOLOGY2.Genetic Diseases:Genetic diseases are currently divided into five majorcategories:A. Single gene defectsB.Multifactorial disordersC. Chromosome disordersD.Somatic cell gene defectsE.Mitochondrial mutationsDepartment of Biochemistry and Molecular Biology,Medicine School
Department of Biochemistry and Molecular Biology, Medicine School BIOCHEMISTRY AND MOLECULAR BIOLOGY 2. Genetic Diseases: Genetic diseases are currently divided into five major categories: A. Single gene defects B. Multifactorial disorders C. Chromosome disorders D. Somatic cell gene defects E. Mitochondrial mutations
BIOCHEMISTRYANDMOLECULARBIOLOGY2.GeneticDiseases:SinglegenedefectsSingle gene, or monogenic, disorders result from amutation at a single siteona chromosome and areinherited in a simple mendelian pattern.Recessive and dominantHeterozygoter is generally normal and homozygotereceiving two defective genes shows clinical symptomsDepartment of Biochemistry and Molecular Biology,Medicine School
Department of Biochemistry and Molecular Biology, Medicine School BIOCHEMISTRY AND MOLECULAR BIOLOGY 2. Genetic Diseases: Single gene, or monogenic, disorders result from a mutation at a single site on a chromosome and are inherited in a simple mendelian pattern. Recessive and dominant Heterozygoter is generally normal and homozygote receiving two defective genes shows clinical symptoms Single gene defects
BIOCHEMISTRYANDMOLECULARBIOLOGY2.GeneticDiseases:Multifactorial disordersMost genetic diseases do not show a mendelian mode ofinheritancebecausethey aredetermined bymanygenesandareofteninfluenced by environmentalfactorsDiabetes mellitusHypertensionManicdepressionDepartment of Biochemistry and Molecular Biology,Medicine School
Department of Biochemistry and Molecular Biology, Medicine School BIOCHEMISTRY AND MOLECULAR BIOLOGY 2. Genetic Diseases: Most genetic diseases do not show a mendelian mode of inheritance because they are determined by many genes and are often influenced by environmental factors. Diabetes mellitus Hypertension Manic depression Multifactorial disorders
ABIOCHEMISTRYANDMOLECULARBIOLOGYTherules governing complexdiseases aredifficultto predictbecause theyinvolve manyfactors,includinglife-styleMonogenicComplexDiseasesDiseasesone genemanygenes广8InheritanceInheritancePatternPattern(dominantor(complex)recessive)100100withwithoutRisk inPopulationgenegeneRiskinlincludeslifestylePopulationandenvironment)Department of Biochemistry and Molecular Biology,MedicineSchool
Department of Biochemistry and Molecular Biology, Medicine School BIOCHEMISTRY AND MOLECULAR BIOLOGY