SNP在人类基因组的应用.jsp.pdfVIP

　遗 传 学 报 　A c ta Gen e tica S in ica , A u gu s t 2 005 , 32 ( 8 ) : 879 ～889 IS SN 0379 - 4 172 A n a ly s is a n d Ap p lic a tio n o f SN P a n d H ap lo typ e in th e Hum a n G en om e 1 2 3 , ① 3 , 4 , ① L I J in g , PAN Yu C hun , L I YiXu e , SH I T ie L iu ( 1. Co lle ge o f L ife S c ien ce B io te chno lo gy , Sha n gh a i J iao To n g U n ive rs ity , Sha n gh a i　20 110 1, C h in a ; 2. Co lle ge o f A g ricu ltu re B io lo gy , Sha n gh a i J iao To ng U n ive rs ity , Sha n gha i　20 110 1, C h in a ; 3. B io in fo rm a tic s C e n te r, Sh an gh a i In s titu te s fo r B io lo g ica l S c ie nce s , C h in e se A ca dem y o f S c ie nce s , Sha n gh a i　20003 1, C h in a ; 4. B io in fo rm a tic s C e n te r, Sha n gh a i U n ive rs ity , Sh a ngh a i　200436 , C h ina ) A b s tra c t: S ing le nu c leo tide p o lym o rp h ism ( SN P ) is th e m o s t comm o n typ e o f gen e tic va ria n t in hum a n ge nom e. H ap lo typ e , de fin e d a s a sp e c ific se t o f a lle le s o b se rve d o n a s ing le ch rom o som e , o r a p a rt o f a ch rom o som e , h a s b e en a n in te g ra l p a rt o f hum a n gen e tic s fo r de ca de s. Th e go a l o f th e in te rn a tio n a l H apM ap p ro je c t is to de te rm in e th e comm o n p a tte rn s o f DNA se qu en ce va ria tio n a n d fin d th e Ta g SN P s rep re se n tin g a ll SN P s in th e hum a n genom e. Som e s tu d ie s dem o n s tra te