分子診斷學(xué)遺傳性疾病的分子診斷(已修改)
2025-06-09 01:30 本頁面
【正文】 Chapter 15 遺傳性疾病的分子診斷 1. There are many different techniques that can be used to diagnose the globin gene mutations, including gapPCR, ARMSPCR, and RE analysis of amplified product. globin：球蛋白 Key Points 2. 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?。? coagulation：凝固，凝結(jié)； recessive：隱性 3. Two multiplex PCRs are constructed in which 9 exons can be amplified simultaneously, and 98% of all deletions can be identified. multiplex：多樣化； exon：外顯子； simultaneously：同時(shí)地； deletion：缺失 4. 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 PCRSTR, PCRSSCP, PCRRFLP, PCRDGCE, and so on. Phenylketonuria：苯丙酮尿 phenylalanine hydroxylase：苯基丙氨酸羥化酶 5. 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：
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