期刊 卵巢早衰患者TGFBR3基因多态的临床研究  被引量:1

Screening TGFBR3 gene in Chinese women with premature ovarian failure

作  者:覃春艳[1] 彭艳辉[1] 黄燕红[1] 谭锦屏 陈瑞琼[1] 金河珠 

机构地区:[1]东莞市长安医院检验科

出  处:《中国优生与遗传杂志》2014年第8期20-22,共3页Chinese Journal of Birth Health & Heredity

Screening TGFBR3 gene in Chinese women with premature ovarian failure

基  金:深圳市科技计划项目(201102094)

摘  要:目的探讨TGFBR3基因与卵巢早衰的相关性,寻找POF的致病基因,以期为POF的预防和治疗提供理论基础。方法收集110例POF患者及110例对照组的外周血样标本,利用盐析法提取外周血白细胞中的DNA,设计TGFBR3基因16外显子编码区及其侧翼的2对引物,通过对PCR反应产物直接测序进行序列分析。结果 TGFBR3 16外显子有5个单核苷酸多态性。2502 A/G位点多态性:卵巢早衰组GG、GA基因型频率分别为75.0%(84/110)、25.0%(28/110),G、A等位基因频率分别为87.5%(196/220)、12.5%(28/220);对照组GG、GA基因型频率分别为88.2%(97/110)、11.8%(13/110),G、A等位基因频率分别为94.1%(207/220)、5.9%(13/220);两组间各基因型频率及等位基因频率分别比较,差异均有统计学意义(P<0.05)。2568 G/A位点多态性:卵巢早衰组GG、GA基因型频率分别为74.1%(84/110)、25.9%(29/110),G、A等位基因频率分别为87.1%(195/220)、12.9%(29/220);对照组GG、GA基因型频率分别为85.5%(94/110)、14.5%(16/110),G、A等位基因频率分别为92.7%(204/220)、7.3%(16/220);两组间各基因型频率及等位基因频率分别比较,差异均有统计学意义(P<0.05)。2430+204_2430+205 insTTGT、2431-7A>C、2467C/T多态性位点基因频率、等位基因频率卵巢早衰组和对照组比较,差异均无统计学意义(P均>0.05)。结论 TGFBR3基因型分布显著改变,提示其在卵巢早衰的病因方面起着重要的作用。

Objective: To screened the TGFBR3 gene polymorphism in Chinese patients with premature ovarian failure (POF) . Methods: 110 patients with POF and Controls were recruited. The exons 16 of TGFBR3 gene mutations was screened using DNA sequencing. Results: Five nucleotide polymorphism (SNP) was identified in exon 16.For 2502 AJG polymorphism, Genotypic frequencies of GG, GA (75.0%, 25.0%) of POF group were significantly different from those of control group (88.2%, 11.8% respectively, all P〈0.05) . Allelic frequency of G, A (87.5%, 12.5%) of POF group were significantly different from those of control group (94.1%, 5.9% respectively, all P〈0.05) . For 2568 G/A polymorphism, Genotypic frequencies of GG, GA (74.1%, 25.9%) of POF group were significantly different from those of control group (85.5%, 14.5% respectively, all P〈0.05) . Allelic frequency of G, A (87.1%, 12.9%) of POF group were significantly different from those of control group (92.7%, 7.3% respectively, all P〈0.05) . Allelic and genotypic frequencies of 2430+204_2430 +205 insTTGT, 2431-7A〉C, 2467C/T have not differed significantly between the two groups (P〉0.05) . Conclusions: A significant diversity of genotypo distribution analysis suggested that TGFBR3 polymorphism may be responsible for the genetic aetiology of POF in Chinese patients.

关 键 词:卵巢早衰 TGFBR3 基因多态 

Premature ovarian failure  TGFBR3  Gene polymorphism 

分 类 号:R711.75[医药卫生—妇产科学]

 

参考文献:

正在载入数据...

 

二级参考文献:

正在载入数据...

 

耦合文献:

正在载入数据...

 

引证文献:

正在载入数据...

 

二级引证文献:

正在载入数据...

 

同被引文献:

正在载入数据...

 

相关期刊文献:

正在载入数据...

相关文献:

正在载入数据...

北京电子科技职业学院特色库 版权所有 ©2018