Đột biến gen Glucose - 6 - Phosphate Dehydrogenase (G6PD) ở ba nhóm dân tộc Mường, Tày, Thái ở Việt Nam

TCNCYH Phu tru'dng 62 (3) - 2009

D O T BIEN GEN GLUCOSE - 6 - PHOSPHATE DEHYDROGENASE

(G6PD) 6 BA NHOM DAN TOC MUOfNG, TAY, THAI 6 VIET NAM

Nguyin Minh Hung\ Ta Thj Tinh\ Hiroyuki Matsuoka^

'/C/ioa Nghien cdu va Dieu trj Sdt ret - Vien Sdt ret - Ky Sinh Triing ~ Cdn trimg Trung Uang

-Khoa MiSn djch - Tnfdng Dai hgc Y Jicbl - Nbat Ban

Thie'u C6PD I a mdt bat thudng dl truyen hay gap nhai, anh hudng den han 400 tneu ngtfdi tren the gidi.

Hiu bet cic trudng hgp thieu C6PD deu do dot bien tren gen G6PD. Muc tieu: phit hien cic diem dot bien

tren gen G6PD cua mdt sd nhdm din tdc Viet Nam. Boi tugng va phugng pbap nghien cdu: tich chiet DNA

td 39 miu mau ciia ba nhdm dan tge Mudng, Tiy vi Thai. Sau khi diing phin dng PCR (Polymerase Chain

Reaction) de nhan ban cic doan exon cua gen C6PD, san pham PCR dugc nhugm vdi fluorescent vi sau dd

la dgc tnnh tU DNA tren may sequencing. Ket qua: cd 6 sU thay ddi cua nucleotide tren gen G6PD tai cac vj

tn 143 T > C, 487 C > A, 871 G > A, 1360 C > T, 1376 G > T vi 1388 G > A. Dot bien tai cic vi tn 871

G> A (G6PD Viangchan) vi 1360 C>T (G6PD Union) hay gap nbat, ty le tuang ifng li 25,7% vi 53,8%. Ket

luan: G6PD Viangchan vi G6PD Union la hai bien the ehii yeu trong nghien edu ve G6PD tai Viet Nam.

Tfl khoa: thie'u hut G6PD

LDATVAND E

Glucose - 6 - Phosphate dehydrogenase

(G5PD) la enzyme xuc tac phan flng dau tien

trong chu trinh Hexose Monophosphate v l thiiu

G6PD II mpt trong nhflng bi t thfldng di truyin

hay gap nhi t d ngfldi.

Gen quy djnh tdng hdp enzyme G6PD nam

tren nhanh di i vung 2 bang 8 cua nhiem sic th i

X (Xq28), gdm 1 3 exon trong dd exon 1 khdng ma

hoi tdng hpp acid amin. Hau hi t cl e trfldng hpp

thiiu G6PD la do sfl thay ddi cua mdt acid amin

gl y ra bdi mdt dot bii n tren gen G5PD va cho

den nay hdn 140 bii n the G6PD da difpc phat

hien va cdng be [10]. Dd ddt bii n tren gen G5PD

la benh di truyin nen viec sfl dung cac dot bien

d l tim ngudn gde td tien chung cua eac nhdm dan

tdc mang nhiiu y nghTa v l mat nhan chung hpc

11,3,81.

Viet Nam cd 54 nhdm di n tdc khac nhau,

thieu G6PD la tfldng dd'i phd bien d cle di n tdc

da difpc diiu tra. Ty le thiiu G6PD tfl 0,5 - 31 % d

cle nhdm dan tec phia Ble va 1,9 - 4,4% d cac

nhdm di n tdc phfa Nam [7, 9]. Tuy nhien nghien

cflu G6PD d mflc dp phl n tfl mdi chi dflng lai d 8

nhdm dan tdc Kinh, K'ho, Chau Ma, Nung, Tly,

Raglai, Pake va Khd Mu [3, 7]. '

D l tii p tuc tim hieu dang dot bii n gen d cac

nhdm dan tdc cdn lai, chung tdi da tii n hinh giai

trinh tfl gen cho cac mau thieu G6PD thu thap tfl

ngfldi di n tdc Mfldng (Hoi Binh), Tay (Cao Bang),

Thi i (Sdn La). Muc tieu:

Phat hien cac diem dot bien tren gen G6PD

cua mgt sd nhom dan tge Viet Nam.

II. DOI TU'ONG VA PHU'ONG PHAP

NGHIEN CL/U

1. Dd'i tfldng nghien cflu

Sang lpc thiiu G5PD cho 1328 dd'i tfldng

thudc ba nhdm dan tpc Mfldng (284 ngfldi), Tay

(424 ngifdi) va Thi i (620 ngfldi). Cd 242 trfldng

hpp thieu G5PD dflpc xac dinh bln g test nhanh

cua Akira Hirono trong dd Mfldng 85 ngifdi, Tay

37 ngfldi va Thai 120 ngfldi.

lOOpl mau dau ngdn tay cua ngfldi thie'u

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