基因诊断-复旦《医用分子遗传学》课件.pdf

Gene Diagnosis 基因诊断 复旦大学出生缺陷研究中心 复旦大学分子医学教育部重点实验室 马端 Research Interests  Genetic and Congenital Defects  Epigenetics and Its Application  Development of Biotechnology New Drugs H1N1 AIDS SARS HPV HBV Gene Diagnosis 基因诊断 Definition of Gene Diagnosis  Analysis of DNA and RNA in order to detect heritable disease-related genotypes, mutations, modifications, karyotypes, or micro-organisms for clinical purposes. Basement of Gene Diagnosis  Diagnostic Marker  Chromosome fragments  DNA: copy number, mutation, SNP, deletion, duplication, etc.  RNA: miRNA, mutation, snRNA Technology of Gene Diagnosis Kary Banks Mullis Nobel prize in 1993 钱嘉韵 AFLP PCR Allele-Specific PCR Hot Start PCR Inverse PCR In Situ PCR ISSR PCR Late-PCR Long PCR Nested PCR RT-PCR Real Time PCR Single Cell PCR Methylation Specific PCR Restriction Fragment Length Polymorphism RFLP Single Nucleotide Polymorphisms (SNPs) • SNP is a DNA sequence variation occurring when a single nucleotide --A, T, C, or G — in the genome differs between members of a species. • Disease SNP • Susceptibility SNP • Diagnostic SNP • Phenotype SNP • Drug associated SNP Gene