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