天津医药

天津医药 ›› 2015, Vol. 43 ›› Issue (1): 12-16.doi: 10.3969/j.issn.0253-9896.2015.01.004

• 细胞与分子生物学 • 上一篇    下一篇

天津汉族人女性群HPRTB、DXS6803、DXS6809 STR基因座遗传多态性研究

张娜 1， 史云芳 1， 李晓洲 1， 李岩 1， 琚端 1， 辛力 2， 姚静怡 2， 谢晓媛 2， 刘殿芹 1， 杨晓惠 1，#br# 岳天孚 1， 张颖 1△#br#   

  1. 1 天津医科大学总医院妇产科医学遗传室（邮编 300052）；2天津市妇女儿童保健中心
  • 收稿日期:2014-06-12 修回日期:2014-09-15 出版日期:2015-01-15 发布日期:2015-01-30
  • 通讯作者: 张颖 E-mail:tjzyyzy@yahoo.com.cn
  • 基金资助:
    天津市科技计划项目

Genetic polymorphisms of HPRTB、DXS6803 and DXS6809 STR loci in Tianjin Han female population

ZHANG Na1, SHI Yunfang1, LI Xiaozhou1, LI Yan1, JU Duan1, XIN Li2, YAO Jingyi2, XIE Xiaoyuan2, LIU Dianqin1,#br# YANG Xiaohui1, YUE Tianfu1, ZHANG Ying1△#br# #br#   

  1. 1 Department of Obstetrics and Gynecology, General Hospital of Tianjin Medical University, Tianjin 300052,China;
    2 Women and Children Health Care Center in Tianjin

  • Received:2014-06-12 Revised:2014-09-15 Published:2015-01-15 Online:2015-01-30
  • Supported by:
    Tianjin science and technology plan projects

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摘要： 【摘要】目的 研究天津汉族女性人群 HPRTB、DXS6803 和 DXS6809 STR 基因座的遗传多态性， 为快速产前诊断
X 染色体数目异常提供实验依据。 方法 收集 150 例无亲缘关系天津汉族女性外周血样本， 应用 QF-PCR 扩增
HPRTB、DXS6803 和 DXS6809 STR 基因座、毛细管电泳检测扩增产物、ABI Prism GeneMapper v3.0 软件分析数据， 从
每个基因座中挑选 2 个纯合子进行测序、命名。 采用χ2检验验证 3 个 STR 基因座基因型分布是否符合 Hardy-Wein⁃
berg 平衡定律。 用 PowerStatsV12 软件分析 STR 基因座的群体遗传学数据。 结果 150 例样本均在 24 h 内扩增成
功。 HPRTB、DXS6803 和 DXS6809 STR 基因座分别检出 10、6、10 个等位基因和 22、12、29 种基因型， 其最常见等位
基因分别是 14、13、14， 出现频率最高的基因型分别是 14-14、12-13 和 13-14。 基因型分布均符合 Hardy-Weinberg
平衡定律（χ2 分别为 10.554、5.783 和 15.355， 均 P＞ 0.05）。 3 个基因座的 He 分别为 0.748、0.649、0.806， Ho 分别为
0.607、0.700、0.713， PIC 分别为 0.706、0.599、0.775， PD 分别为 0.894、0.814、0.931， PE 分别为 0.299、0.428、0.449。 结
论 HPRTB、DXS6803 和 DXS6809 STR 基因座在天津汉族女性人群具有高杂合度、高遗传信息量， 是 X 染色体良好
的遗传标记， 可用于X 染色体数目异常的快速产前诊断。

 

关键词: X 染色体, 串联重复序列, 多态现象, 遗传, 天津, 汉族, HPRTB, DXS6803, DXS6809, STR 基因座, 定量荧光聚合酶链反应

Abstract: [Abstract] Objective Studing HPRTB、DXS6803 and DXS6809 STR loci genetic polymorphism in Tianjin Han female population ,to provide experimental data in the prenatal diagnosis of aneuploidies accurately and rapidly. Methods A total of 150 samples were collected in Tianjin Han population .QF-PCR and capillary electrophoresis was applied.The relevant data were analyzed by ABI Prism GeneMapper v3.0 software. From each locus selected 2 homozygotes sequence named .The frequencies of the genotypes were checked using Chi-square test to verify Hardy-Weinberg Equilibrium (P＞0.05). Genetic polymorphisms data were calculated by PowerStatsV12 software. Result 150 samples were successfully amplified in 24 hours.10、6、10 alleles and 22、12、29 genotype were found respectively in HPRTB, DXS6803 and DXS6809 locus.The most common allele were 14,13,14.The highest frequency of genotype were 14-14,12-13 and 13-14.No significant deviations from the Hardy-Weinberg equilibrium were observed in these three STR loci(χ2 was 10.554,5.783 and 15.355,respectively,P>0.05).The He of these three STR loci was 0.748,0.649,0.806 respectively.The Ho was 0.607,0.700,0.713 respectively.The PIC was 0.706,0.599,0.775 respectively.The PD was 0.894,0.814,0.931 respectively.The PE was 0.299,0.428,0.449 respectively.Conclusions HPRTB, DXS6803 and DXS6809 STR loci were highly polymorphic. which are favorable genetic markers on chromosome X and can be used in rapid prenatal genetic diagnosis .

Key words: [Key words] chromosome X, STR loci, genetic polymorphism, quantitative fluorescence polymerase chain reaction, Tianjin Hanpopulation