《生物化学》课程PPT教学课件（留学生）Chapter 33 Molecular Basis of Inherited Disease

ABIOCHEMISTRYANDMOLECULARBIOLOGYRequirementMasterthecontentMolecular cloningFamiliarwith the content1.Genetic disease2. Molecular hybridization3.Polymerasechainreaction4.Restriction fragment length polymorphism(RFLP)Department of Biochemistry and Molecular Biology,Medicine School

Department of Biochemistry and Molecular Biology, Medicine School BIOCHEMISTRY AND MOLECULAR BIOLOGY Requirement Master the content Familiar with the content 1.Genetic disease 2. Molecular hybridization 3. Polymerase chain reaction 4.Restriction fragment length polymorphism(RFLP) Molecular cloning

BIOCHEMISTRYANDMOLECULARBIOLOGYChapter 28MolecularBasis ofInherited DiseaseDepartment of Biochemistry and Molecular Biology,Medicine School

Department of Biochemistry and Molecular Biology, Medicine School BIOCHEMISTRY AND MOLECULAR BIOLOGY Chapter 28 Molecular Basis of Inherited Disease

BIOCHEMISTRYANDMOLECULARBIOLOGYOutline*Overview*Genetic disease*Molecular cloning* Polymerase chain reaction*Molecularhybridization* Restriction fragment length polymorphism(RFLP)Department of Biochemistry and Molecular Biology,Medicine School

Department of Biochemistry and Molecular Biology, Medicine School BIOCHEMISTRY AND MOLECULAR BIOLOGY Outline *Overview *Genetic disease *Molecular cloning * Polymerase chain reaction * Molecular hybridization * Restriction fragment length polymorphism(RFLP）

BIOCHEMISTRYANDMOLECULARBIOLOGY1.overview>Genetic diseases are disorders in which theclinical symptoms are linked to alterations in DNA The human genome contains DNA withapproximately 3 billion(109) base pairs that encode30,000 to 40,000 genes located on 23 pairs ofchromosomes.Department of Biochemistry and Molecular Biology,Medicine School

Department of Biochemistry and Molecular Biology, Medicine School BIOCHEMISTRY AND MOLECULAR BIOLOGY ➢Genetic diseases are disorders in which the clinical symptoms are linked to alterations in DNA ➢ The human genome contains DNA with approximately 3 billion(109) base pairs that encode 30,000 to 40,000 genes located on 23 pairs of chromosomes. 1. overview

BIOCHEMISTRYANDMOLECULARBIOLOGY1.overview>It is now to determine the nucleotide sequence oflong stretches of DNA, and it is expected that theentire seguence of the human genome called thehuman genome project.Department of Biochemistry and Molecular Biology,Medicine School

Department of Biochemistry and Molecular Biology, Medicine School BIOCHEMISTRY AND MOLECULAR BIOLOGY ➢It is now to determine the nucleotide sequence of long stretches of DNA, and it is expected that the entire sequence of the human genome called the human genome project. 1. overview

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