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[1]白春月,沈 丹,马占兵,等.宁夏回、汉族人群HSD17B1基因单核苷酸多态性的分布特征[J].宁夏医科大学学报,2018,(03):296-300.[doi:10.16050/j.cnki.issn1674-6309.2018.03.010]
 BAI Chunyue,SHEN Dan,MA Zhanbing,et al.Distribution Characteristics of HSD17B1 Single Nucleotide Polymorphism in Ningxia Hui and Han Population[J].Ningxia Medical University,2018,(03):296-300.[doi:10.16050/j.cnki.issn1674-6309.2018.03.010]
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宁夏回、汉族人群HSD17B1基因单核苷酸多态性的分布特征(PDF)
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《宁夏医科大学学报》[ISSN:1005-8486/CN:64-1029/R]

卷:
期数:
2018年03期
页码:
296-300
栏目:
论 著
出版日期:
2018-03-30

文章信息/Info

Title:
Distribution Characteristics of HSD17B1 Single Nucleotide Polymorphism in Ningxia Hui and Han Population
作者:
白春月1 沈 丹2 马占兵13 党 洁13 陆 宏13 霍正浩13
(1. 宁夏医科大学生育力保持教育部重点实验室、宁夏回族自治区生殖与遗传重点实验室,银川 750004; 2. 宁夏回族自治区妇幼保健院(宁夏儿童医院)新生儿筛查科,银川 750001; 3. 宁夏医科大学基础医学院细胞生物学与医学遗传学系,银川 750004)
Author(s):
BAI Chunyue1 SHEN Dan2 MA Zhanbing13 DANG Jie13 LU Hong13 HUO Zhenghao13
(1. Key Laboratory of Fertility Preservation and Maintenance,Ministry of Education, Ningxia Medical University,Key Laboratory of Reproduction and Ctenetics in Ningxia Hui Autonomous Region,Yinchuan 750004; 2. Department of Newborn Screening, Maternal and Child Care Service Centre of Ningxia,Yinchuan 750004; 3. School of Basic Medicine, Ningxia Medical University,Yinchuan 750004)
关键词:
HSD17B1基因单核苷酸多态性回族汉族宁夏
Keywords:
HSD17B1 genegenetic polymorphism Hui ethnicity Han ethnicityNingxia
分类号:
R714.21
DOI:
10.16050/j.cnki.issn1674-6309.2018.03.010
文献标志码:
A
摘要:
目的 探讨HSD17B1基因三个SNPs位点rs605059、rs676387、rs2676531在宁夏回、汉族人群中的分布特征。方法 应用TaqMan基因分型技术分析822例(回族410例,汉族412例)HSD17B1基因三个SNPs位点等位基因频率和基因型频率。结果 宁夏回、汉族人群HSD17B1基因rs605059、rs676387位点基因型及等位基因频率分布差异无统计学意义(P>0.05);而rs2676531位点基因型及等位基因频率分布在回、汉族间差异有统计学意义(P<0.05);宁夏人群各多态性位点基因型及等位基因频率总体分布与HAPMAP扫描的四个地区人群结果比较,rs605059、rs2676531位点与欧洲人群基因型及等位基因频率总体分布差异有统计学意义(P<0.05);rs676387、rs2676531位点与非洲人群基因型及等位基因频率总体分布差异有统计学意义(P<0.05)。结论 宁夏回、汉族人群HSD17B1基因rs605059、rs676387位点基因型及等位基因频率分布特征相同;HSD17B1的基因型及等位基因频率总体分布存在种族差异。
Abstract:
Objective To investigate the distribution characteristics of rs605059,rs676387 and rs2676531 of HSD17B1 gene in Ningxia Hui and Han population. Methods The allele and genotype frequencies for three SNPs of all 822 cases(410 cases from the Hui and 412 cases from the Han) were analyzed by Taqman Gene Typing. Results There is no significant difference in rs605059 and rs676387 between Hui and Han population(P>0.05),while rs2676531 is significantly different(P<0.05). After comparingwith HAPMAP allele and genotype frequencies of four regions it has been found that results of rs605059 and rs2676531 are significantly different from European population(P<0.05),whereas results of rs676387 and rs2676531 are significantly different from African population(P<0.05). Conclusion It is shown that the allele and genotype frequencies distribution characteristics of HSD17B1 gene rs605059 and rs676387 are identical between Hui and Han population in Ningxia, however,there are ethnic differences in overall distribution of HSD17B1 gene.

参考文献/References:


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备注/Memo

备注/Memo:
收稿日期:2017-10-21
基金项目:国家自然科学基金(31360257;31560293;31460272) 作者单位:白春月,女,宁夏人,在读硕士研究生。
通信作者:霍正浩。E-mail:huozhh@163.com
更新日期/Last Update: 2018-03-30