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动脉粥样硬化遗传易感性与HUMARA(GGC)n 基因多态性的相关性研究(PDF)

《心脏杂志》[ISSN:1009-7236/CN:61-1268/R]

期数:
2002年第2期
页码:
126-128
栏目:
临床研究
出版日期:
2002-03-01

文章信息/Info

Title:
Relationship between HUMARA STR polymorphism and atherosclerosis susceptibility
作者:
王玉霞1;  郑强荪1;  舒　青2;  刘同库3;  苗　雅1
1.第四军医大学唐都医院心脏内科, 陕西 西安 710038; 2.第四军医大学遗传与发育教研室;3. 北华大学医学院附属医院心脏内科, 吉林 吉林 132001
Author(s):
WANG Yu-xia1;  ZHENG Qiang-sun1;  SHU Qing2;  LIU Tong-ku3;  MIAO Ya1
1.Department of Cardiology, Tangdu Hospital,2. Department of Genetics and Development,Fourth Military Medical University, Xi’an, Shaanxi 710038, China; 3. The affiliated hospital of Beihua Medical University, Jilin, Jilin 132001, China
关键词:
雄激素受体基因;  动脉粥样硬化;  遗传易感性;  短串联重复序列
Keywords:
HUMARA gene;  atherosclerosis;  genetic susceptibility;  short tandem repeat
分类号:
R543.5,Q75
DOI:
-
文献标识码:
A
摘要:
目的 研究雄激素受体基因 (HUMARA )多态性在陕西地区老年动脉粥样硬化 (AS)人群中分布规律及其该位点与 AS遗传易感性的关系。方法 应用 PCR- Am p- FL P(多聚酶链反应扩增片段长度多态性 )技术对老年 AS患者 10 0例及非 AS老年人 78例 HU MARA - STR(短串联重复序列 short tandem repeats)位点进行多态性分析。结果 在正常人群中 HU MARA基因 GGC位点共检测出 16种基因型 ,13个等位基因 ,其片段大小在 177～ 2 6 7bp,杂合度为 85 %,多态信息量 (polymorphism information content,PIC)为 0 .80 ;AS人群 HU MARA基因 GGC位点共检出 15种基因型 ,13个等位基因 ,其片段大小为 195～ 2 37bp,杂合度为 77%,多态信息量为 0 .72 ,两群体中基因频率分布有显著差异 (P<0 .0 1) ,发现某些片段存在基因频率分布高峰 ,在两群体中亦有差异性。结论 推测 HUMARA基因 STR多态位点与 AS的遗传易感性相关。
Abstract:
AIM To observe the distribution of the polymorphism of HUMARA gene (GGC)n in atherosclerosis people in Shaanxi province and to assess its possible relationship with suceptibility of atherosclerosis so as to provide clues for genetic marker of atherosclerosis. METHODS The polymorphic HUMARA-STR locus was studied by PCR-Amp-FLP in 100 cases with atherosclerosis and 78 normal old people in Shaanxi. RESULTS 16 genotypes,13 alleles ranging from 177 bp to 266 bp were revealed in normal old people of Shaanxi. The heterozygosity of HUMARA (GGC)n was 85% , Polymorphism information content (PIC) 0. 80; 15 geno types, 13 alleles ranging from 195 bp to 237 bp were revealed in atherosclerosis patients. The heterozygosity of HUMARA (GGC)n was 77% and PIC 0. 72. There was an obviously difference between the two groups of people in the distribution of allele frequence (P < 0. 01). We found that there were distribution peaks of gene frequence in some alleles, which was also different between the two groups. CONCLUSION Polymorphism of HUMARA gene STR is associated with the susceptibility of the atherosclerosis

参考文献/References

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备注/Memo

备注/Memo:
收稿日期：2001-10-19.基金项目: 国家自然科学基金资助课题(No. 39700165)　
更新日期/Last Update: 2002-03-01