**

-6-G-6-PD **

*(Pharmacogenetics)*

*1957Mostusky,1959Friedrich Vogel1962Kalow1973(WHO)*

*P450SNPs2090Human Genome ProjectHGPHGP*

* *

*DNADNA2322(autosome)(sex chromosome)DNA(allele)*

*(genotype)S

(phenotype) *

*, *

**

**

**

**

**P450(CYP450)CYP450

*-50P450 123CYP1CYP2 CYP3P450 *

Nelson1993P450P45040%CYPCYP255%CYP2DP450individualCYP2D6DalyCYP2D6CYP2D6*CYP2D6*6A **

**

* CYPlA2CYP450

17- P4501A2 ( CYP1A2*

*CYPlA2157.8kb76CYPlA215CYPlA2*1FCYPlA20.67CYPlA2*

*CYPlA2

CYPlA2C734A*

*CYP2C9CYP2C9 P4502C9 ( CYP2C9*

* CYP2C910CYP2C9*32.1~4.5 *

*P4502C19 ( CYP2C19CYP2C19 P450S-S-4-

CYP2C1910(10q241-10q24.3)14 *

*CYP2C19*2 CYP2C19*3

CYP2C19*2(25%)(13%)

CYP2C19*38%1%*

*P4502D6(CYP2D6)CYP1%~2% 80 CYP2D6 4-(EM)(PM)*

*CYP2D6 5070(PM)CYP2D6 PM 5%~10% 1%36%( IM)CYP2D6*10 58% *

* CYP2D622CYP2D6*3ACYP2D6*4A*4BCYP2D6*5CYP2D6*6APMPMCYP2D6CYP2D6 *

*CYP3A4 CYP450CYP3A4 ()DNA P4503A4 (CYP3A4)*

*NAT2 N-(N-acetyltransferaseNAT)N- NAT *

*,

10~30%40~70%

*

*

*

*N-N-acetyltransferase, NATNAT1NAT2NAT2NAT1*

*NAT2NAT2NAT2*49NAT2NAT2*4NAT2*4 *

* 30~5070~8095% *

**

**

**

*2NATlNATlNAT287NATlNAT2NAT1NATl*10NAT1NATl* 10*

*() ()(ADH) 4kDADH5*

ADH5ADHADHADHsADHsADHs

**

*(ALDH) ALDHALDH7ALDHALDHlALDH2ALDHs *

*ALDH2ALDH

*

**ALDH2

**

*-6- -6-(Glucose 6-phosphatedehydrogenaseG6PD)G6PDXG6PD(GSH) *

*G6PDNADPHGSH()H202GSHG6PDG6PD *

*TPMTTMT-OCOMT*

*-OCOMTO-COMT25%50%COMT22q11.1~q11.26COMT*

*(thlopurina methyl-transferaseTPMT)(thlopurina methyl-transferaseTPMT)6-(6-MP)TPMT 6-MP10~15 6-MP *

*MDRI P-P-ATP *

*P-MDRIC3435T P-3435CC P-AUC3435TT 3435CC55%3435TT 20%*

**

*>1%*

Ser49GlyGly389Arg1 Ser49GlyGly389Arg 389Arg**

1 2 2 16 (Gly-16Arg) Gly16Arg165.32.3

**

*(ACE)ACE ACE ACE 16 ACE I AT1RA1166C *

* *

* *

*77q3170508()(F508)F50870~9050 *

*24(cystic fibrosis transmembrane conductance regulatorCFTR)ATPCFTR3(F508)ATPCFTR*

*Ca2+ Ca2+Ca2+ATP*

*Ca2+*

* 198825*

*

5*

*K KKKK

*

**

*, ;40genetic locuspedigree(nortriptyline)identical twinfraternal twinheredity coefficient,heritability

h01010.880.98

N-(genetic polymorphismP-450(debrisoquine)(extensive metabolizerEM)(poor metabolizer, PM)DNADNAmRNAS-N-