Chẩn đoán trước sinh bệnh loạn dưỡng cơ Duchenne

TCNCYH 66 (1) - 2010

dystrophin d mdt sd benh nhan ban dfldng cd J.P., Guc - Scekic M., Radivojevic D., Djurisic M.,

Duchenne bang ky thual Multiplex PCR". Nhflng Breuning M.H, White S.J., den Dunnen J.T.

van de nghien ci'fu co ban trong khna hpc sfl sdng, (2005). "Deletion and duplication screening in the

Bao cao hdi nghi tdan qudc 3/1 1/2005, tr 1435 - 7. DMD gene using MLPA", Eur J Hum Genet, 1 3,

6. Harvey B. (1992). "Neurcmuscular pp-1231-4 .

Discrder", Nelson textbook of pediatrics, 12lh 8. Mendell R.J., Griggs CR. (1991). "Muscular

edition, pp. 1 jJ i - 60, dystrophin", Harrison's principles of internal

7. Lalic T., Vossen R.H., Coffa J., Schouten medicine, 1 2th edition, pp. 211 2 - 8. ,

Summary

APPLYING MULTIPLEX LIGATION - DEPENDENT PROBE AMPLIFICATION (MLPA) TO

DETECT MUTATIONS IN GENETIC DISEASES

fXicheme Muscular Dystrophy (DMD) is caused by mutatien in the dystrdphin gene. Ndwadays, many

studies shew that MLPA is a rapid technique (3- 4 days), which alldws high - thrdughput screening

deletions in DMD and other genetic diseases. Objectives: apply MLPA procedure to detect deletion in

genetic diseases (initially in DMD). Methods: six DMD patients were performed gene diagnosis using

MLPA method. Results: MLPA analysis results show that three of six DMD patients were found to have

exon deletions in the dystrophin gene; especially one patient has mutation which ddes ndt beldng to the

"hot - spot" region. Conclusion: successfully applying MLPA to detect deletion in dystrophin gene.

Keywords: DMD, Gene mutation. Multiplex Ligation - dependent Probe Amplification, MLPA

CHAN DOAN TRl/^C SINH

BENH LOAN Dl/ClNG CO DUCHENNE

Nguyen Thi Bang Sflcfng^, Tran Van Khanh^ Nguyen thi Ha \ LuU Vu Dung', Ta Thanh Van''^

'Trung tain nghien cdu gen - protein, Dai hgc Y Ha Ndi;

^Bg mdn hloi sinh, Dai hgc Y Hi Ngi; ^Benh vien Phu San Hal Phdng

Phit hien ngifdi me mang gen dystrophin dot bien, tU vi'n di truyen va chan doin trUde sinh se giiip lam

giam ty IS benh nhan DMD trong cdng dong. Muc tieu: ap dung vi hoin thien quy trinh chan doin tnfdc

sinh bSnh DMD. Doi tugng va phuang pbap nghien cdu: DNA ditgc tach chiet td te bio di ciia hai thai phu

mang gen dystrophin bi ddi bien xda doan. Sd dung phtfang phip PCR vi RFLP.de phin tich gen dystrophin

ciia thai nhi. Kit qua: gidi linh ciia thai nhi ditgc xic djnh gom mdt nam vi mdt nif, ca hai thai nhl deu

khdng mang gen dot bien. Ket luan: chin doan tnfdc sinh benh DMD giiip phit hien henh sdm vii cd hifdng

xd ly kip ihdi nham lim giam ly le Ire em mic henh DMD.

Tfl khoa: loan dfldng cd Duchenne, chan doan trfldc sinh

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