背景:存在启动子区的多态性可以改变基因的表达水平,可能关系人类对疾病的易感性.白细胞介素6启动子基因多态性和民族以及很多疾病有关,不同民族其基因多态性表现特点也常常不同.目的:观察白细胞介素6启动子-597和-572位点在西藏藏族人群的分布,为藏族群体遗传学和高原人群免疫背景提供基础资料.设计:随机抽查.单位:锦州医学院人类学研究所.对象:于2003-10和2004-07分别对西藏自治区拉萨市和那曲牧区进行样本采集.选择108名藏族青少年为研究对象,其中男60名,女48名,年龄14～21 岁.纳入标准:父母均为藏族并经过严格体格检查确定健康.纳入对象均对检测项目知情同意并签署知情同意书.方法:抽取108名藏族青少年的外周静脉血5 mL,采用盐析法提取人的白细胞DNA.应用聚合酶链式反应扩增IL-6启动子包含-597和-572片断,对扩增片断进行限制酶切后取不同条带进行克隆后测序.主要观察指标:西藏自治区藏族人启动子多态性分布情况,以及和中国汉族和其他民族比较结果.结果:纳入的108名藏族青少年数据全部进入结果分析.①不同性别人群IL-6启动子-572C/G位点多态性分布:-597位点108个样本中都没有发现GA和AA基因型,仅发现GG基因型.-572位点存在CC,CG,GG3种基因型,频率依次为0.63,0.35,0.02;基因型分布符合Hardy-Weinberg平衡,具有群体代表性;等位基因频率分别为0.81,0.19;基因型和等位基因频率均无性别差异(P＞0.05).②不同种族间IL-6基因-597G/A与-572C/G多态性分布:英法白种人群中-597位点存在GG,GA,AA3种基因型,G,A等位基因频率分别为0.60和0.40,明显不同于本实验中西藏藏族人群位点多态性分布;而日本人群中-597位点也不存在多态性,与我国汉族人群接近(P＞0.05).③不同条带基因分型,DNA序列测定结果:-597位点仅发现有GG基因型(不含酶切位点,酶切后为1条片段,长度仍为PCR扩增产物),未见GA和AA基因型.-572位点存在CC,CG,GG3种基因型,频率依次为0.64,0.35,0.01;基因型分布符合Hardy-Weinberg平衡(P＞0.05),具有群体代表性;C,G等位基因频率分布为0.81,0.19;基因型和等位基因分布频率均无性别差异.不同种族人群间IL-6基因频率及等位基因携带频率分布的比较,西藏藏族和我国汉族人接近,而与欧美西方白种人比较,差异明显.结论:IL-6基因-597和-572多态性存在种族差异,西藏藏族人群可能不存在-597多态性;其-572位点有着自己的民族特点,存在CC、CG、GG3种基因型,G等位基因为少见基因,与欧美白种人相比-572位点基因型等位基因频率分布存在显著差异,而与我国汉族和日本人接近,这种差异可能是与高原人特有的遗传基因有关.
揹景:存在啟動子區的多態性可以改變基因的錶達水平,可能關繫人類對疾病的易感性.白細胞介素6啟動子基因多態性和民族以及很多疾病有關,不同民族其基因多態性錶現特點也常常不同.目的:觀察白細胞介素6啟動子-597和-572位點在西藏藏族人群的分佈,為藏族群體遺傳學和高原人群免疫揹景提供基礎資料.設計:隨機抽查.單位:錦州醫學院人類學研究所.對象:于2003-10和2004-07分彆對西藏自治區拉薩市和那麯牧區進行樣本採集.選擇108名藏族青少年為研究對象,其中男60名,女48名,年齡14～21 歲.納入標準:父母均為藏族併經過嚴格體格檢查確定健康.納入對象均對檢測項目知情同意併籤署知情同意書.方法:抽取108名藏族青少年的外週靜脈血5 mL,採用鹽析法提取人的白細胞DNA.應用聚閤酶鏈式反應擴增IL-6啟動子包含-597和-572片斷,對擴增片斷進行限製酶切後取不同條帶進行剋隆後測序.主要觀察指標:西藏自治區藏族人啟動子多態性分佈情況,以及和中國漢族和其他民族比較結果.結果:納入的108名藏族青少年數據全部進入結果分析.①不同性彆人群IL-6啟動子-572C/G位點多態性分佈:-597位點108箇樣本中都沒有髮現GA和AA基因型,僅髮現GG基因型.-572位點存在CC,CG,GG3種基因型,頻率依次為0.63,0.35,0.02;基因型分佈符閤Hardy-Weinberg平衡,具有群體代錶性;等位基因頻率分彆為0.81,0.19;基因型和等位基因頻率均無性彆差異(P＞0.05).②不同種族間IL-6基因-597G/A與-572C/G多態性分佈:英法白種人群中-597位點存在GG,GA,AA3種基因型,G,A等位基因頻率分彆為0.60和0.40,明顯不同于本實驗中西藏藏族人群位點多態性分佈;而日本人群中-597位點也不存在多態性,與我國漢族人群接近(P＞0.05).③不同條帶基因分型,DNA序列測定結果:-597位點僅髮現有GG基因型(不含酶切位點,酶切後為1條片段,長度仍為PCR擴增產物),未見GA和AA基因型.-572位點存在CC,CG,GG3種基因型,頻率依次為0.64,0.35,0.01;基因型分佈符閤Hardy-Weinberg平衡(P＞0.05),具有群體代錶性;C,G等位基因頻率分佈為0.81,0.19;基因型和等位基因分佈頻率均無性彆差異.不同種族人群間IL-6基因頻率及等位基因攜帶頻率分佈的比較,西藏藏族和我國漢族人接近,而與歐美西方白種人比較,差異明顯.結論:IL-6基因-597和-572多態性存在種族差異,西藏藏族人群可能不存在-597多態性;其-572位點有著自己的民族特點,存在CC、CG、GG3種基因型,G等位基因為少見基因,與歐美白種人相比-572位點基因型等位基因頻率分佈存在顯著差異,而與我國漢族和日本人接近,這種差異可能是與高原人特有的遺傳基因有關.
배경:존재계동자구적다태성가이개변기인적표체수평,가능관계인류대질병적역감성.백세포개소6계동자기인다태성화민족이급흔다질병유관,불동민족기기인다태성표현특점야상상불동.목적:관찰백세포개소6계동자-597화-572위점재서장장족인군적분포,위장족군체유전학화고원인군면역배경제공기출자료.설계:수궤추사.단위:금주의학원인류학연구소.대상:우2003-10화2004-07분별대서장자치구랍살시화나곡목구진행양본채집.선택108명장족청소년위연구대상,기중남60명,녀48명,년령14～21 세.납입표준:부모균위장족병경과엄격체격검사학정건강.납입대상균대검측항목지정동의병첨서지정동의서.방법:추취108명장족청소년적외주정맥혈5 mL,채용염석법제취인적백세포DNA.응용취합매련식반응확증IL-6계동자포함-597화-572편단,대확증편단진행한제매절후취불동조대진행극륭후측서.주요관찰지표:서장자치구장족인계동자다태성분포정황,이급화중국한족화기타민족비교결과.결과:납입적108명장족청소년수거전부진입결과분석.①불동성별인군IL-6계동자-572C/G위점다태성분포:-597위점108개양본중도몰유발현GA화AA기인형,부발현GG기인형.-572위점존재CC,CG,GG3충기인형,빈솔의차위0.63,0.35,0.02;기인형분포부합Hardy-Weinberg평형,구유군체대표성;등위기인빈솔분별위0.81,0.19;기인형화등위기인빈솔균무성별차이(P＞0.05).②불동충족간IL-6기인-597G/A여-572C/G다태성분포:영법백충인군중-597위점존재GG,GA,AA3충기인형,G,A등위기인빈솔분별위0.60화0.40,명현불동우본실험중서장장족인군위점다태성분포;이일본인군중-597위점야불존재다태성,여아국한족인군접근(P＞0.05).③불동조대기인분형,DNA서렬측정결과:-597위점부발현유GG기인형(불함매절위점,매절후위1조편단,장도잉위PCR확증산물),미견GA화AA기인형.-572위점존재CC,CG,GG3충기인형,빈솔의차위0.64,0.35,0.01;기인형분포부합Hardy-Weinberg평형(P＞0.05),구유군체대표성;C,G등위기인빈솔분포위0.81,0.19;기인형화등위기인분포빈솔균무성별차이.불동충족인군간IL-6기인빈솔급등위기인휴대빈솔분포적비교,서장장족화아국한족인접근,이여구미서방백충인비교,차이명현.결론:IL-6기인-597화-572다태성존재충족차이,서장장족인군가능불존재-597다태성;기-572위점유착자기적민족특점,존재CC、CG、GG3충기인형,G등위기인위소견기인,여구미백충인상비-572위점기인형등위기인빈솔분포존재현저차이,이여아국한족화일본인접근,저충차이가능시여고원인특유적유전기인유관.
BACKGROUND: Polymorphism in promoter region can change the expression of genes, which may be associated with susceptivity of diseases. Gene polymorphism of interleukin-6 (IL-6) promoter is associated with nationality and many diseases. Different nationalities often display different characteristics of gene polymorphism.OBJECTIVE: To observe the distribution of polymorphism at sites -597 and -572 in IL-6 promoter region in Tibet Tibetan population and to provide the theoretical data for Tibetan population genetics and background of immunity.DESIGN: Randomized investigation.SETTING: Institute of Anthropology, Jinzhou Medical College.PARTICIPANTS: Totally 108 healthy Tibetan teenagers were selected from Lasa and Naqu region in Tibet autonomous region from October 2003 to July 2004, including 60 males and 48 females, aged from 14-21 years. Inclusive criteria:The parents of the volunteers were healthy Tibetans after body examination. The volunteers knew the fact, agreed to participate into the trail and signed the informed consent.METHODS: 5 mL peripheral vein blood was collected from 108 Tibetan teenagers. DNA from human leucocytes was extracted by salt fractionation. IL-6 promoter including -597 and -572 fragments was amplified by polymerase chain reaction (PCR). Representative fragments were cloned then sequenced after restriction fragment length polymorphism (RFLP).MAIN OUTCOME MEASURES: Distribution of polymorphism in Tibet Tibetan population; Results after comparison with those of other nationalities including Han population.RESULTS: Data of 108 Tibetan teenagers were involved in the result analysis. ①Distribution of polymorphism on -572C/G site of IL-6 promoters in population of either sex: There were no GA and AA genotypes at site -597, but only GG genotype appeared. There were CC, CG and GG genotypes at site -572, and the frequencies were 0.63, 0.35 and 0.02 in order. Distribution of genotype with representativeness met the Hardy-Weinberg equilibrium. Allele frequencies were 0.81 and 0.19, respectively. There was no significant difference of either sex in genotype and allele frequency (P ＞ 0.05). ②Distribution of polymorphism on -597 G/A and -572 C/G in different nationalities: GG, GA, AA genotypes appeared on -597 site in England and France, and G and A allele frequencies were 0.60 and 0.40,respectively. It was significantly different from that of Tibetan in Tibet. Furthermore, Japanese had no polymorphism,which was similar to that of Hans in China (P ＞ 0.05). ③Genotype of different straps and results of DNA sequencing:Only GG genotype was found on -597 site (without the restriction site, one fragment after restriction, PCR amplification products), no GA and AA genotypes. CC, CG and GG genotypes appeared at site -572, and frequencies were 0.64,0.35 and 0.01, respectively. Distribution of genotype with representativeness met the Hardy-Weinberg equilibrium (P ＞0.05). Allele frequencies were 0.81 and 0.19, respectively. There was no significant difference of either sex in genotype and allele frequency. Distribution of gene frequency and allele frequency in IL-6 were similar between Tibetan and that of Hans, but it was significantly different from that of population in England, France and America.CONCLUSION: There are nationality differences of IL-6 gene polymorphism at sites -597 and -572. No polymorphism is found at site -597 in Tibetan. Race differences are seen at site -572, having CC, CG and GG genotypes and G allele is rate. Compared with white population, there is significant difference in genotype and allele frequency at site -572. Their characteristics are close to Hah population and Japanese, which may be associated with genetic gene of persons living in plateau.
