中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2010年
5期
584-589
,共6页
柯金坤%姚宇峰%史磊%于亮%林克勤%陶玉芬%史荔%易文%黄小琴%孙浩%褚嘉祐
柯金坤%姚宇峰%史磊%于亮%林剋勤%陶玉芬%史荔%易文%黃小琴%孫浩%褚嘉祐
가금곤%요우봉%사뢰%우량%림극근%도옥분%사려%역문%황소금%손호%저가우
藏族群体%缺氧诱导因子1a%单核苷酸多态性%低氧环境%海拔%限制性片段长度多态性
藏族群體%缺氧誘導因子1a%單覈苷痠多態性%低氧環境%海拔%限製性片段長度多態性
장족군체%결양유도인자1a%단핵감산다태성%저양배경%해발%한제성편단장도다태성
Tibetan%hypoxia-inducible factor-1α%single nucleotide polymorphism%hypoxia%altitude%restriction fragment length polymorphism
目的 研究不同海拔高度的低氧环境差异对基因缺氧诱导因子1α基因(hypoxia inducible factor 1 alpha,HIF1A)的选择作用.方法 选取世居于西藏、青海、云南的3个不同海拔高度的藏族群体,利用聚合酶链反应-限制性片段长度多态性技术检测HIF1A基因的9个单核苷酸多态性(single nucleotide polymorphisms,SNP)位点.结果 所有非同义突变SNP位点的基因型频率与等位基因型频率在3个藏族群体之间差异无统计学意义,而rs11549465位点的基因型频率在云南藏族分别与西藏藏族和青海藏族之间差异有统计学意义(P＜0.05).4个内含子SNP位点基因型频率与等位基因频率在西藏藏族与青海藏族之间差异均无统计学意义;但在西藏藏族和青海藏族分别与云南藏族比较时,基因型频率与等位基因频率差异均有统计学意义(P＜0.05),且跟海拔差异有相关性.结论 海拔高度不同引起的低氧环境差异有可能对 HIF1A 基因有选择作用.
目的 研究不同海拔高度的低氧環境差異對基因缺氧誘導因子1α基因(hypoxia inducible factor 1 alpha,HIF1A)的選擇作用.方法 選取世居于西藏、青海、雲南的3箇不同海拔高度的藏族群體,利用聚閤酶鏈反應-限製性片段長度多態性技術檢測HIF1A基因的9箇單覈苷痠多態性(single nucleotide polymorphisms,SNP)位點.結果 所有非同義突變SNP位點的基因型頻率與等位基因型頻率在3箇藏族群體之間差異無統計學意義,而rs11549465位點的基因型頻率在雲南藏族分彆與西藏藏族和青海藏族之間差異有統計學意義(P＜0.05).4箇內含子SNP位點基因型頻率與等位基因頻率在西藏藏族與青海藏族之間差異均無統計學意義;但在西藏藏族和青海藏族分彆與雲南藏族比較時,基因型頻率與等位基因頻率差異均有統計學意義(P＜0.05),且跟海拔差異有相關性.結論 海拔高度不同引起的低氧環境差異有可能對 HIF1A 基因有選擇作用.
목적 연구불동해발고도적저양배경차이대기인결양유도인자1α기인(hypoxia inducible factor 1 alpha,HIF1A)적선택작용.방법 선취세거우서장、청해、운남적3개불동해발고도적장족군체,이용취합매련반응-한제성편단장도다태성기술검측HIF1A기인적9개단핵감산다태성(single nucleotide polymorphisms,SNP)위점.결과 소유비동의돌변SNP위점적기인형빈솔여등위기인형빈솔재3개장족군체지간차이무통계학의의,이rs11549465위점적기인형빈솔재운남장족분별여서장장족화청해장족지간차이유통계학의의(P＜0.05).4개내함자SNP위점기인형빈솔여등위기인빈솔재서장장족여청해장족지간차이균무통계학의의;단재서장장족화청해장족분별여운남장족비교시,기인형빈솔여등위기인빈솔차이균유통계학의의(P＜0.05),차근해발차이유상관성.결론 해발고도불동인기적저양배경차이유가능대 HIF1A 기인유선택작용.
Objective To investigate the effect of hypoxia environment induced by altitude on hypoxia inducible factor 1α (HIF1A)gene. Methods Nine single nucleotidc polymorphism (SNP) loci of the HIF1A gene from three Tibetan groups (Tibet, Qinghai Province and Yunnan Province) were genotyped using PCR-restriction fragment length polymorphism(PCR-RFLP) method. Results For non-synonymous mutation SNP site, there was no significant difference among the three Tibetan groups, except for SNP rs11549465 between Tibet Tibetan and Yunnan Tibetan, as well as between Qinghai Tibetan and Yunnan Tibetan. Frequencies of genotypes and alleles in rs4899056, rs1957757, rs10873142 and rs3783752 had significant differences between Tibet Tibetan and Yunnan Tibetan, and between Qinghai Tibetan and Yunnan Tibetan (all P＜0.05). We also observed that the difference was negatively correlated with the altitude. Conclusion The results suggested that the HIF1A gene might be under hypoxic selection induced by high altitude in the three groups.
