Một trường hợp đột biến tạo mã kết thúc trên gen Col1A1 ở bệnh nhân tạo xương bất toàn

TAP CHl NGHliN CO'U Y HQC

Summary

C0L1A1 GENE MUTATION IN OSTEOGENESIS

IMPERFECTA PATIENTS

Osteogenesis Imperfecta is an autosomal dominant desease. Most of mutafions will change

the triple form Gly-X-Y which could harm a Collagene 1 structure. Moreover, some mutation on

introns may be also a cause of the Collagene 1 disorder, 15 patients were diagnosed as

Osteogenesis Imperfecta type IV based on clinical information and family history, DNA samples

were extracted from fresh blood. Direct sequencing was ferformed to identify the mutation in

C0L1A1 gene. The results indicated that 11/15 01 pafients were found to have the point mutation

inCOLIAI gene.

Keyword: osteogenesis Imperfecta-OI, C0L1A1 gene mutation

MOT TRL^QNG HQP DOT BI^N TAO MA K^T THUC • • • •

TREN GEN C0L1A1 (^ BENH NHAN TAO XU'QNG BAT TOAN • •

Bill Thj Hdng Chau\ Trln Van Khanh\ Hd Cim Tii\

Trln Huy Thjnh\ Vu Chi Dung^ Ta Thanh Van'

^Trwdng Dpi hpc Y Ha Ndi. 'Bpnh vipn Nhi Tmng wang

Bpnh tpo xwang bit todn (Osteogenesis Imperfecta: 01) cdn gpi Id bpnh xwang thuy tinh hay bpnh gidn

xwang. Id mdt bpnh di tmyin trdi trdn nhiem sic thi thudng do ddt biin gen tdng hap collagene typ 1

(C0L1A1). Nghien cuv nay dwac thwc hipn vdi mpc tidu xdc djnh ddt biin gen C0L1A1. Kit qud nghidn cdu

cho thiy bpnh nhdn cd ddt biin tpo md kit thuc trdn gen C0L1A1. Kit ludn: Ddy Id tmdng hap bpnh nhdn

01 diu tien d Vipt Nam dwac phdt hidn Id ed ddt biin tpo md kit thuc trdn gen C0L1A1.

Tir kh6a: dpt biln tgo ma kit thuc gen COLI Al

I. DAT VAN O^

Gen C0L1A1 bao gdm 51 exon, vdi chilu

ddi 17,6 kb nim trOn cdnh ddi eua nhilm sic

thl 17 (17q), md hda tdng hgp collagene typ

1, Collagene typ 1 dugc tlm thiy d xuang,

mdng boc ede ca quan, gidc mge, ciing mge

mit, edn vd ddy ching, mgch mdu, da. mdng

ndo. Id thdnh phin ehlnh eua ngd rdng, chiim

30% trpng lugng ea thl, OOt biln gen

C0L1A1 ddn din thilu hgt tdng hgp hodc bit

thudng clu true eiia phdn tu collagen typ 1

gdy bOnh tgo xuang bit todn (Osteogenesis

Imperfecta 01) vdi ede triOu eh&ng ldm sdng:

gidn xuang, gidm khdi lugng xuang vd bit

thudng md liOn kit [2], BOnh nhdn 01 thudng

kdm theo ede tdn thuang khde, bao gdm:

cung mge mit mdu xanh. tgo rdng bit todn,

gilm thinh lgc... Cho din nay, ehua cd

phuang phdp dilu trj ddc hiOu bOnh 01. d ViOt

Nam, ehln dodn bOnh Ol ehii ylu dga vdo

triOu eh&ng Idm sdng, viOc nghiOn c&u phdt

hiOn ede dgng dOt biln eua gen C0L1A1 d l

ehln dodn xdc djnh bOnh ehua dwgc triln

khai [1, 3]. O l tdi nghiOn cuu ndy duge thgc

10 TCNCYH 78 (1) - 2012