中华整形外科杂志
中華整形外科雜誌
중화정형외과잡지
CHINESE JOURNAL OF PLASTIC SURGERY
2008年
3期
224-227
,共4页
张刚%蒋军健%罗少军%汤少明%梁杰%余谦
張剛%蔣軍健%囉少軍%湯少明%樑傑%餘謙
장강%장군건%라소군%탕소명%량걸%여겸
癜痕疙瘩%基因%突变%色谱法,液相%序列分析,DNA
癜痕疙瘩%基因%突變%色譜法,液相%序列分析,DNA
전흔흘탑%기인%돌변%색보법,액상%서렬분석,DNA
Keloid%Genes%Mutation%Chromatography,liquid%Sequence analysis,DNA
目的 探讨瘢痕疙瘩患者RUNX3基因RH120480片段突变的情况.方法 收集瘢痕疙瘩标本20例,设患者自身静脉血标本为正常对照,提取基因组DNA,PCR扩增RUNX3基因RH120480片段,采用变性高效液相色谱法对扩增片断进行基因变异检测,将不同类型的PCR片断进行全序列测定,测序结果与GeneBank比较.结果 DHPLC筛查血液样品均为单个色谱峰显示为纯合链;瘢痕疙瘩组织样品95%(19/20)为双峰显示有突变的异源双链存在.基因序列分析发现20例瘢痕组织DNA样本中,有19例突变,突变率为95%,发现2个突变位点,其中96位碱基A的缺失率为90%(18/20),对照组缺失率为10%(2/20);第279位碱基的C的插入突变率为95%(19/20),对照组缺失率为0%(0/20);两个突变位点的差异均具有统计学意义(P<0.01).结论 RUNX3基因RH120480片段突变与瘢痕疙瘩的发生有关,RUNX3基因可能为一瘢痕抑制基因.
目的 探討瘢痕疙瘩患者RUNX3基因RH120480片段突變的情況.方法 收集瘢痕疙瘩標本20例,設患者自身靜脈血標本為正常對照,提取基因組DNA,PCR擴增RUNX3基因RH120480片段,採用變性高效液相色譜法對擴增片斷進行基因變異檢測,將不同類型的PCR片斷進行全序列測定,測序結果與GeneBank比較.結果 DHPLC篩查血液樣品均為單箇色譜峰顯示為純閤鏈;瘢痕疙瘩組織樣品95%(19/20)為雙峰顯示有突變的異源雙鏈存在.基因序列分析髮現20例瘢痕組織DNA樣本中,有19例突變,突變率為95%,髮現2箇突變位點,其中96位堿基A的缺失率為90%(18/20),對照組缺失率為10%(2/20);第279位堿基的C的插入突變率為95%(19/20),對照組缺失率為0%(0/20);兩箇突變位點的差異均具有統計學意義(P<0.01).結論 RUNX3基因RH120480片段突變與瘢痕疙瘩的髮生有關,RUNX3基因可能為一瘢痕抑製基因.
목적 탐토반흔흘탑환자RUNX3기인RH120480편단돌변적정황.방법 수집반흔흘탑표본20례,설환자자신정맥혈표본위정상대조,제취기인조DNA,PCR확증RUNX3기인RH120480편단,채용변성고효액상색보법대확증편단진행기인변이검측,장불동류형적PCR편단진행전서렬측정,측서결과여GeneBank비교.결과 DHPLC사사혈액양품균위단개색보봉현시위순합련;반흔흘탑조직양품95%(19/20)위쌍봉현시유돌변적이원쌍련존재.기인서렬분석발현20례반흔조직DNA양본중,유19례돌변,돌변솔위95%,발현2개돌변위점,기중96위감기A적결실솔위90%(18/20),대조조결실솔위10%(2/20);제279위감기적C적삽입돌변솔위95%(19/20),대조조결실솔위0%(0/20);량개돌변위점적차이균구유통계학의의(P<0.01).결론 RUNX3기인RH120480편단돌변여반흔흘탑적발생유관,RUNX3기인가능위일반흔억제기인.
Objective To study the mutation in RH120480 fragment of RUNX3 gene among the Chinese patients with keloid.Methods 20 samples of keloids were collected with each patient's venous blood sample as normal control group.The genomic DNA was extracted from each sample.RH120480 fragment of RUNX3 gene was amplified by Polymerase Chain Reaction(PCR).The amplification products were analyzed by denaturing high-performance liquid chromatography (DHPLC).Some fragments were sequenced directly and then compared with the GenBank data.Results By DHPLC,the results of all the blood samples showed single chromatographic peak indicating homoduplexes,meanwhile the results of keloid tissue samples showed double peak indicating heteroduplexes.Through gene sequencing,19 cases showed gene mutation among the 20 samples of keloid.The mutation incidence was 95%.Two mutation sites were detected including base A absense in 96th sites and base C insert in 279th sites.The base A absence rate was 90%(18/20)in keloid group,and 10%(2/20)in control group.The base C insert mutation rate was 95%(19/20) in keloid group,and 0%(0/20) in control group.There was significant difference in the mutation rate between two groups on the two mutation sites.Conclusions There is a strong correlation between the RH120480 fragment of RUNX3 gene mutation and Keloid.RUNX3 gene could be possibly a scar suppressor gene (SSG).