s6 5.2014 TAP CHI Y • DlfOC HOC QUAN Slf HAT HI~N VA £)INH LUQNG ADN PHOI THAI TlJ DO TRONG TUONG NGUal Me BANG PHUONG PHAp REALTIME - peR Tri~u tuô Sang*; TrĐn Van Khoa*; Dinh Doan Long** phat hlen Sl,l'ton tal cua ADN phOi thai tl,l' va te baa phOi thai tl,l' huyet ngU'cYime 9'~ Z9S 01: i ~ ~== : ~ ~ + -~ ~ ~~ ~ ~ ~, _.i :::.Q7ZS 6~'££ £O+3~V'Z 9£'6£ ~O+3~B'L LZ£ 6~ DvIIPS, 9901r f~:.;to : -E Ilt911itll ;l!C-i ~ ; -; -~ r -r + ~ ~' ~ L':'7: 1>6'I>Z VO + ~S'~ B£'9£ ZO+ 39Z' ~ S OLS ~ l -;3 : ;_ + + -r -r + ~ -:i '_'t O;(;O'~ ~ 550~'£~ Zv'5Z VO + 30Z'~ 95'9£ ZO+ 3£t~ S'L ZI>S """J' I""";;;;; H'; 1:9'LZ 1::0+ 3(;0'17 55'5£ 1:0+ 3LG'S O~ OvS 4_ -4 -~ ~ ~ -+ -~ - 9~ ::~::: :::: :: ::::: ::::: ::: :::: z~ :: ::; £OL9'v~ zorc ZO + 3£v'L ZL'B£ ZO+ 360'~ Z~ SSg H: 99Lt9 66'0£ 1::0+ 36L'Z L9'S£ 1:0+ 3~£'Z £'9 £Z£ Z~ :::::: ::::: :: ::::; :::: ::: ::::: ,~ :: L9L9'6 S6'6Z ZO + 39S'L 6B'01> ~o + 3vtL ZZI:: 99ZS'1> LV'vz 1>0+ 31::£'1> 9'££ £0 + 396' ~ H£ v~LS' ~ Sv'9Z SO+ 369' ~ ~S'Z£ £0 + 3LS'Z £'9 69Z L ~£ 00 + 3BI>'~ 17'9 SO£ ~~ ~ + -4 -~ ~~ ~~ ~ ~ -.~~':'6069'0 56'9Z ZO+ 390'S izsc 00 + ~S'£ z's 96Z g:: ~L5L'0 5~ ~n Sv'£Z 170+ 30 ~'z V9'S£ 1:0+ 365' ~ S izs I:: 59'5(; VO + 35S'(; Z9'S£ 1:0+ 305'£ V'S ZZ9 : (%I:~:JA"S Ha:~:-,o H:d:: ~1 ~ , AdO:> NY'S AdO:> NY'S ':1 19n1 if~ ~i" N~:N us 'l;J11 HN~8 £ ?" 19l n~! 'tV\! '9W !.Q.n6u6u.o.nll1Anl,J 6UOJl!4U !e4l eQ~ NOV QP 6u9N : ~ DUElS :_.~ :nes ~nb l1)j oeo ::>.6.npn4l IW~ 6ucD4::> !9~::l~ n~w Z ! U~Jl 9W !.Q.n6u6u.onill l1An4 6uOJl !4U !e4l NOV' 9P 6u~u eJl Wy!)j 6u.6.n( 4uip yP U~Jl 4UlJl Anb 6ulip dV • '.~ '~)j !Bln BQ~Z~ u~nt u\lP 8,i nd)~ U9!46 d)4l u~nl tQl !B4l 6UBWdJu "4d 6UDdlll\lhn4 n~w OV 6U.6dll 4U!P he4~ ~nb 'l\l)4'Z '1 = lCi ~L.661 17l0l;-S,9S ils N~mO)OH )ono - AJH) dtJl "~ - ~1 TAP CHi Y - DlIOC HOC QUAN SlI SO 5-2014 29 297 2,87E + 02 38,21 1,08E + 04 30,27 2,6574 30 314 11 4,02E + 01 40,71 4,63E + 02 31,97 8,6825 31 Am n¢i chling 1,33E + 04 29,08 0,00 32 Amn¢i chling 1,40E + 04 27,75 0,00 33 270 8,4 8,13E+04 31,97 0,00 34 271 11 3,42E + 04 34,1 0,00 35 275 2,74E + 04 24,47 0,00 36 276 5,28E + 04 24,74 0,00 37 280 6,2 1.88E + 03 29,95 0,00 38 295 5,21E + 04 30,99 0,00 39 300 8,3 7,93E + 04 33,29 0,00 40 309 1,38E + 04 28,71 0,00 41 310 11,2 1,90E + 04 28,79 0,00 42 311 12 1AOE + 04 27,75 0,00 T~t ca 40 mau nghiEm CLrUgen GAPDH d~u xuat hien cac tin hieu v&i 56 ban copy cua gen GAPDH nay/1 ml tLl' 4,63E + 02 d~n 7,99E + 05/1 ml huy~t tuonq Gen SRY xuat hi$n tin hieu & cac mau dU'O'ng tinh va 56 ban copy cua gen SRY dao dong tLl' 1,48 - 2,97E + 03/1 ml huy~t tU'O'ng, Cac mau kh6ng xuttt hi$n tin hleu cua gen SRY la thai mang nhiem 5~C th~ gi&i tinh XX, nbng ADN gen GAPDH huyM tU'O'ng cua nhCPngmau dao dong tLl' 1,88E + 03 d~n 8,13E + 04 ban copy/1 ml huy~t tU'O'ng, 86i v&i mau noi chLrng am, tin hleu gen SRY kh6ng xuat hi$n va tin hieu gen GAPDH cua mau noi chLrng am 1131,33E + 04, noi chLrng am 1131,40E + 04 ban copy/ml KET LU~N £)a phat hi~n va dlnh 1U'Q'ngdU'Q'Cnbng ADN tl,l' cua thai nhi luu hanh huy~t tU'O'ngngU'ai me bang phU'O'ngphap realtime - peR Nghien CLrU mo hU'&ng chan dean dl tat truce sinh va cac b$nh di truy~n trLJ'&csinh bang bi$n phap kh6ng can thi$p, TAl L1~U THAM KHAo 1, Bianchi OW, Flint AF, Pizzimenti MF, Knoll JH, Latt SA Isolation of fetal DNA from nucleated erythrocytes in maternal blood, Proc Natl Acad Sci USA 1990,87, pp,3279-3283, 50 2, Bianchi Ow, Shuber AP, DeMaria MA, FougnerAC, Klinger KW Fetal cells in maternal blood: determination of purity DNA yield by quantitative peR Am J Obstet GynecoL 1994, 171, pp.922-926 Bianchi OW, Williams JM, Sullivan LM, Hanson FW, Klinger KW, Shuber AP peR quantitation of fetal cells in maternal blood in normal DNA aneuploid pregnancies Am J Hum Genet 1997,61, pp.822-829 Bianchi Ow, Zickwolf GK, Weil GJ, Sylvester S, DeMaria MA Male fetal progenitor cells persist in maternal blood for as long as 27 years postpartum Proc Natl Acad Sci USA 1996,93, pp.705-70S TAP CHi y DlTOC HOC QUAN SlT 565.2014 BolADN CR Setting microsatellites free 2: 972-974CamaschellaC, AlfaranoA, E, Travi M, Primignani P, Caligaris CF, G (1990) Prenatal diagnosis of fetal ".",I,nrun Lepore-Bostondisease on maternal blood.Blood 1996,75, pp.2102-2106 2,6574 8,6825 0,00 0,00 0,00 0,00 Ilite alterations in plasma DNA all cell lung cancer patients Nat Med 2, pp.1033-1035 0,00 0,00 0,00 Cheung MC, Goldberg JD, Kan YW diagnosis of sickle cell anemia DNA by analysis of fetal cells in maternal Nat Genet 1996, 14, pp.264-268 0,00 0,00 0,00 Hamada H, Arinami T, Kubo T, Hamaguchi H, Iwasaki H Fetal nucleated cells in maternal peripheral blood: frequency DNA relationship to gestational age Hum Genet 1993, 91, pp.427-432 Heid CA, Stevens J, Livak KJ, Williams PM Realtime quantitative PCR Genome Res 1996,6, pp.986-994 10 HolIADN PM, Abramson RD, Watson R, GelfADN DH Detection of specific polymerase chain reaction product by utilizing the 5_-3_ exonuclease activity of the Thermus aquaticus DNA polymerase Proc Natl Acad Sci USA 1991,88, pp.7276-7280 ),00 ),00 ban copy 3en SRY d¢ng tLl' n SRY la ang cua !t tU'!>'ng GAPDH rnl aria MA, maternal yield by DI 1994, f van LM, p peR olood in Am J : 'ell GJ, )genitor ong as i U~A 51 ir - _ - - - ~_:f-=-~~ -_=-_ -_ ~~~-~ ... Quiagen ADN sau tach chi~t dLl'Q'choa tan trorig 50 ui H20 deian ADN sau dLl'Q'ckhu€!chd~i bang ky thu~t realtime _ PCR voi cac d~u do: DOl TUdNG, HoA CHAT VA SRY_F 5'-TGGCGATTAAGTCAAATTCGC·'j... by DI 1994, f van LM, p peR olood in Am J : 'ell GJ, )genitor ong as i U~A 51 ir - _ - - - ~_:f- =-~ ~ -_ =-_ -_ ~~ ~-~ ... DvIIPS, 9901r f~:.;to : -E Ilt911itll ;l!C-i ~ ; -; -~ r -r + ~ ~' ~ L':'7: 1>6'I>Z VO + ~S'~ B£'9£ ZO+ 39Z' ~ S OLS ~ l -; 3 : ;_ + + -r -r + ~ -: i '_'t O;(;O'~ ~