Điều tra tỷ lệ thiếu hụt Glucose 6 Phosphate Dehydrogenase hồng cầu ở một số dân tộc sống tại Đăk Lăk và Lâm Đồng, Việt Nam

TCNCYH Phu tritdng 62 (3) - 2009

variants including a new variant distributed in 9. Verle~ P (2000). Glucose - 6 - phosphate

Lam Dong province, Vietnam. Acta Med, dehydrogenase in northern Vietnam. Trop Med

Okayama, 51, pp. 213-219 . and Int Health, 3, pp. 203 - 206.

8. Nuchprayoon 1 (2002). G6PD Viangchan 10. Vulliamy T and Beutler E (2002).

(871 G > A) is the most common deficiency Hematologically important mutations: glucose - 6 -

variant in the Thai population. Hum Mutat, 1 9, (1 85). phosphate dehydrogenase. Blood Cells Moi Dis, 28, (93).

Summary

MUTATIONS ON GLUCOSE - 6 - PHOSPHATE DEHYRDROGENASE (G6PD) GENE IN

THREE ETHNIC GROUPS: MUONG, TAY, AND THAI IN VIETNAM

Glucose - 6 - phosphate dehydrogenase (G5PD) is one of the most common hereditary disorders in the

world, affecting to more than 400 million people in the world. In most of the cases, G5PD deficiency was

caused by mutation (s) on G6PD gene. Objectives: to find out mutant points on G6PD gene of some

Vietnam ethnic groups. Methods: genomic DNA was extracted from 39 blood samples belongs to 3 ethnic

groii|3s: Muong, Tay, and Thai. PCR (Polymerase Chain Reaction) was used to amplify the all of exons of

G6PD gene. PCR products was purified and dyed with fluorescent then reading sequencing of DNA.

Results: there were 6 changes of nucleotide at position 143 T > C, 487 G > A, 871 G > A, 1360 C > T,

1376 G > T and 1388 G > A. The change at positions 871 G > A (G6PD Viangchan) and 1360 C > T

(G6P1'3 Union) was quite predominant with prevalence 25.7% and 53.8%, respectively. Conclusion:

(i6PD Viangchan and C6Pf) Union were two common variants in the studies of G6PD among three

ethnic groups: Muong, Tay, and Ihai in Vietnam.

Keywords: G6PD deficiency, Vietnam, G6PD Viangchan, G6PD Union

eiEU TRA TY LE THIEU HUT GLUCOSE 6 PHOSPHATE

DEHYDROGENASE HONG CAU 6 MOT SO DAN TOC SONG TAI

D A K LAK VA LA M DONG, VIET NAM

Ta Thj TTnh, Le Minh Dao

Vien Sdt ret - Ky sinh triing - Cdn triing Trung ttang

Thieu glucose 6 pholphale dehydrogenase hong cau (G6PP) li mdt benh dl truyen cd Hen quan de'n

nhiim si( lhe gidi linh X, mat benh ly rdi loan enzym thtfdng gap nhai d ngifdi. Benh hay gap d nhdng

nhom dim Ioc sdng trong vung sdt ret lUu hanh. Viec xac djnh ty le thieu G6PD d cic nhdm din tge tren cd

y nghia quan trgng lrong chinh sich thtidc sdt rel. Muc tieu: xic djnh ty le thieu G6PD hong cau d 4 nhdm

dan Ioc lai Dak Lak va Lam Dong. Doi Tugng va phuang pbap ngbien cdu: dieu tra dt ngang tren 4 dan tdc

E Dc, M'ndng (tai Dak Lak nam 2005) vi Co ho, Chu ru (tai Liim Ddng nam 2006), sd dung phuang phip

nhanh (Akira hirano - 1998) de phii hien cic trtfdng hop thieu C6PD. Ket qua: ty le thieu C6PD nhu sau￾14