cancer genetics
(cancer family)Warthin1931GHause1936Lynch1971
784295113 4818;1940,13;72;=47 48 Lynch
1)retinoblstoma RB)1/21000-1/100004-
1RB) 25%)
RB13p14.3RBG1S75%
RBRBRBrbrbrbRBRB
RBrbrbrb
2Wilms)WT38%3/4490%20Del(11)(p11)
AD precancerious lesion AD
110000090 APC5q211AD familial polyposis coli,FPC
()AD
5- 10q2516q22 17p1213%
1% 713p14 4q316q2611p1316q23
12q1313% t1214q13;q32) Wilmsdel(11)(p13p14)
DNAAR
1BloomBS) ---30
BloomBS)1SCE2 3
BloomBS) 115q26.1159KD-blm3blmDNA2 AR
2FanconiFanconi anemiaFA1/350000DNA
3ART100FADNA:14q12inv(7)
4 xeroderma pigmentosumXPDNA
T
1ADTB,ADA) 20q12-q13.1
2AIDS)532AIDS
AHHAHH()()-S-GSTAHHGST40
1914Boveri12
-stem line)modal) (side line)
1. 46XXXY+8 46XXXY+8+9
2.
Ph CML G1971 22q1973 t922 (q34;q11) ABL-BCR1
Ph
9q22qC-bcr(130kb)C-abl(280kb)(145kD
Ph 95%CMLPhPh
14q+Burkitt75%14q+t(8;14)(q24;q32) 14q+ 8q-
del(3)(p14p23) PTPG
1p-6q-
1p-7q-
oncogene) 1.
2.1910 RousRSV1970 BaltimoreTeminRNADNA,
Dresbergv-srcRSVRNA1971 Martin RSVv-oncv-src
1076Bishop v-src cDNAv-srcC-SRC
(cellular oncogene,c-onc)DNA
3. SRCSIS INT2 HSTERBB1 FMS KIT ERBA RAS PIMMYC JUN FOS
4.
5.HRAS12GGCGTC
tumor suppressor gene ---- anti-oncogene
1.1971 HarrisHela
2.1RB)1313q14
1988 RB
200kb,27mRNA4.7kb928DNAGGAAGTGAP53RB1986RB:
RBRBE2FG1(R )S RBDNAC-MYCDNA
2p53p53 17p13.120kb11mRNA2.8kb393p53
Tp53RBp21p27cyclinECDK2E2FG1S
1.(nm23H12.2TIMP2)nm23H117q12-q218.5kb5ATIMP217q22-q25
APC 5q21-q22KRAS2 12p11.1-p12.1DCC 18q21Tp53 17p13.1nm23H1 17q12-q21Nm-23H1