《遗传学》课程教学资源（PPT课件，英文版）Cloning a Disease Gene

Announcement No formal mid-term However, there willl be one test before final probably in May. The purpose is to guide your study and to let you do better in final

Announcement • No formal Mid-term • However, there will be one test before final, probably in May. The purpose is to guide your study and to let you do better in final

Cloning a Disease Gene

Cloning a Disease Gene

There are many ways of cloning a disease gene, depending on what is known about the disease. We will show several typical examples in this part of the lecture

There are many ways of cloning a disease gene, depending on what is known about the disease. We will show several typical examples in this part of the lecture

dentification of Hemophilia(1) Albert Victoria (1819-1901) Ⅳ○○ 9 1011121314

Identification of Hemophilia A (1)

Identification of Hemophilia a (2) Vessel damage Inactive XIl Active XIl nactive X→ Active x Inactive X Active X Inactive x Active Factor vill Prothrombin Factor v Thrombin Fibrinogen→- Fibrin

Identification of Hemophilia A (2)

Identification of Hemophilia A 3) (c) Analysis of presence or absence of blood-clotting factors Itype Factors person Hemophiliac VII Prothrombin Fibrinogen 十

Identification of Hemophilia A (3)

Identification of Hemophilia A(4) (d) Purified 口口口「 factor Vlll Obtain amino AA1 AA2 AA3 AA4 AA5 acid sequence Use to determine corresponding degenerate AAA TTG GCC TAT CGG nucleic acid sequence Synthesize oligonucleotide.…… Probe library Find factor vill clone Structure of gene as determined from clone kb02040608010012

Identification of Hemophilia A (4)

Linkage Analysis (2) B=allele from B6 parent Individual mice s= allele from Spret parent LOCI cy6 AgoS.NR88的8奇88可的奇导寺令导98 1 BSBBSSSBBSBBSSSBSBBSSBSBBBSSSBBSBSSSBSBBBBSSSBBSSS Analyzed 2 BSSBBSBSBSSBBSBSSSBBSBBSSBBSBSBSBBSBBSSSSBBSBSBSSB in lab a L 3 BSSSBBSBBSSSBBSBSSSBBBSBSSBBSBBSSBBSBSSBSSBBSBBSSB Analyzed 4 SBBBSBSSBBBSSBSSBBSSBSSBSBBBSSSBBSSBSSBBSBBBSSSBSB 5 BSBBSSSBSSBSBSSBBBSSSBBBBBBSSBBSBSSSBBSBBSBSSBSSSS in lab b 6 BSBSSBBSSBSSBBBSBSSBBBSSBSBSBSSBSSBBBSSBBSBSBSSBBS Loci 1 and 5 are probably linked 1 BSBBSSSBBSBBSSSBSBBSSBSBBBSSSBBSBSSSBSBBBBSSSBBSSS 5 BSBBSSSBSSBSBSSBBBSSSBBBBBBSSBBSBSSSBBSBBSBSSBSSSS

Linkage Analysis

Linkage Map Chromosome 7 Chromosome 8 Chromosome 267c 237cM 170cN D7s2l· 52 D8F69 Doss D7S108 3,3 8s20 2,9 DES D7s89 266 D7510 D7SI12 D7S103 D8s35 IFNBI PSRYI Ds|26 DTS83 D8S26 27 53 DBS21 21 D9S3 D7s|0 12 4:7 D9s10r D7562 LPL. D9s或· 6LD7545 D8s/33. D9s19 74 3.2二D7586 8.8 6.7 7S369 D8S/36 D955鲁 57 TCRG 92 D9s39 D7S59· GcK· D7S57 群鹏 95 粪ssP3 D7S92 DeSI 60D7s59 12 93 D7S%6 D55. DISBI 陽 D9s20 EGFR· 5.9 D95· ERY3 D722 11.2 D8s16s D9s22

Linkage Map

Generation of Linkage Map and its Genetic Application Chromosome 7 Chromosome 8 Chromosome 9 267cM 237cM 17ocⅣ 5.2 D7s2· 38千 23.3 D9s54 D7S108 232 D7s89 26.6 7.D7510D7s112 D8s35 IFNBI D8s26 DoS126- 12.7 153 D8s21 D7SI00 D7S62 LPL. 212 2 D954 D754J5 p D8s33 D9S19. p D7s86 8.8 D7s369 D8s/36 D9s5· 5 TCRG 9.2 D9s39 D7S69· 7s57 2 ASSP3 D759 D7s59 9.3 2""n" 128 D7596 D7S81 D9s20 95/· ERV3 D722 21 2l. Ds398 122 D9553· 22 CEn24 2.5 213 D7s368 D8S8 D9s58 D7s440· D8S23 22.1 D7S129 HXB· 222 D7s15 D9s41 D9S12 COLJAZ 21 D7s82·|poY3 Basa. 21.1 D9S103 GsN色

Generation of Linkage Map and its Genetic Application