分子诊断学遗传性疾病分子诊断.pptVIP

;There are many different techniques that can be used to diagnose the globin gene mutations, including gap-PCR, ARMS-PCR, and RE analysis of amplified product. globin：球蛋白;Hemophilia is a congenital disease of the coagulation disorders which constitute recessive disorders linked to chromosome X. The study was carried out by the SSCP, RELP, Southern blot, VNTR, and STR. hemophilia：血友病； congenital disease ：先天性疾病； coagulation：凝固，凝结；recessive：隐性;Two multiplex PCRs are constructed in which 9 exons can be amplified simultaneously, and 98% of all deletions can be identified. multiplex：多样化； exon：外显子； simultaneously：同时地； deletion：缺失;Phenylketonuria is an inborn error of metabolism resulting from a deficiency of phenylalanine hydroxylase. There are many techniques that can be used to mutation screening, such as PCR-STR, PCR-SSCP, PCR-RFLP, PCR-DGCE, and so on. Phenylketonuria：苯丙酮尿 phenylalanine hydroxylase：苯基丙氨酸羟化酶;Cystic fibrosis(CF) is caused by mutations in the CFTR gene. Five tests are most frequently used: resctriction enzyme analysis, the heteroduplex analysis, ARMS, reverse hybridization and OLA. Cystic fibrosis：囊胞性纤维症 heteroduplex：异源双链核酸分子 Hybridization：杂交;Huntington’s disease(HD) involves a polymorphic(CAG) repeat sequence located in exon 1 of the IT15 gene at 4p16.3. HD can be accurately confirmed or excluded by PCR-based assay. Huntington’s disease(HD) ：亨廷顿病;Fragile X disease results from trinucleotide (CGG) repeat expansions. At present, diagnostic procedures of fragile X disease are based on Southern blotting and on PCR amplification. Fragile X disease ：脆性X综合征 trinucleotide：三核苷酸;Two major technologies are in use for PND and PGD: PCR for monogenic diseases and FISH for chromosomal aberrations. monogenic ：单基因的;遗传性疾病的分子诊断（molecular diagnosis of genetic disease）是指通过分析患者体内遗传物质结构或表达水平的变化，对人体健康状态和疾病做出或辅助诊断的方法。;评估基因的存在和缺陷通常以DNA为材料;Section 1 遗传性疾病分子诊断的策略;自然条件 自发突变 人为干预 诱发突变 携带突变的生物个体或群体称为突变体（mut