東鄉(xiāng)族嬰幼兒維生素D受體基因單核苷酸多態(tài)性與維生素D缺乏性佝僂病的相關性研究
發(fā)布時間:2019-05-07 08:47
【摘要】:目的研究東鄉(xiāng)族嬰幼兒維生素D受體(VDR)基因單核苷酸多態(tài)性(SNP)與維生素D缺乏性佝僂病(佝僂病)的相關性,結合當?shù)氐乩須夂蛱攸c,探討東鄉(xiāng)族該病的遺傳易感性。運用兩種檢測基因型和基因頻率的方法進行實驗,并比較其靈敏度和精確度,為相關研究提供技術支持。 方法采用病例對照研究方法,分別選取確診的東鄉(xiāng)族佝僂病患兒69例和健康東鄉(xiāng)族嬰幼兒72例作為病例組和對照組,應用高分辨率熔解曲線分析(HRM)技術檢測各組不同樣本VDR基因ApaI、BsmI、FokI、TaqI位點SNP基因型,運用x2檢驗比較兩組中各基因型的分布頻率,從而得出VDR基因這四個位點SNP與東鄉(xiāng)族嬰幼兒佝僂病的關系。另外運用聚合酶鏈反應—限制性片段長度多態(tài)性(PCR-RFLP)方法檢測VDR基因多態(tài)性ApaI位點基因型,通過基因測序驗證其檢測結果與HRM技術檢測結果的靈敏性與準確性,比較兩種實驗方法的優(yōu)劣。 結果東鄉(xiāng)族嬰幼兒的VDR基因ApaI位點SNP的不同基因型在病例組和對照組中的分布差異無統(tǒng)計學意義(x2=0.113,P0.05),BsmI位點SNP的不同基因型在病例組和對照組中的分布差異無統(tǒng)計學意義(x2=0.192,P0.05)FokI位點SNP的不同基因型在病例組和對照組中的分布差異有統(tǒng)計學意義(x2=13.716,P0.05),TaqI位點SNP的不同基因型在病例組和對照組中的分布差異無統(tǒng)計學意義(x2=1.022,P0.05)。HRM技術與PCR-RFLP方法的檢測結果有明顯差異。 結論東鄉(xiāng)族嬰幼兒VDR基因ApaI、BsmI、TaqI位點SNP與佝僂病發(fā)生無明顯相關性,FokI位點SNP與佝僂病發(fā)病有關,病例組中T/T基因型頻率明顯高于C/C基因型頻率。在VDR基因多態(tài)性與佝僂病遺傳易感性的研究中HRM技術較PCR-RFLP方法更為靈敏精確。
[Abstract]:Objective to study the relationship between single nucleotide polymorphism (SNP) of vitamin D receptor (VDR) gene and vitamin D deficiency rickets (rickets) in infants of Dongxiang nationality, and to explore the genetic susceptibility of the disease in Dongxiang nationality according to the geographical and climatic characteristics of Dongxiang nationality. Two methods were used to detect genotype and gene frequency, and their sensitivity and accuracy were compared to provide technical support for related research. Methods 69 cases of rickets of Dongxiang nationality and 72 cases of healthy children of Dongxiang nationality were selected as case group and control group by case-control study. High resolution fusion curve analysis (HRM) was used to detect SNP genotype at ApaI,BsmI,FokI,TaqI locus of VDR gene in different samples of each group, and x2 test was used to compare the distribution frequency of each genotype in the two groups. Thus, the relationship between the four loci of VDR gene SNP and rickets in infants of Dongxiang nationality was obtained. In addition, polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the ApaI genotype of VDR gene polymorphism. The sensitivity and accuracy of the results of PCR-RFLP and HRM were verified by gene sequencing. The advantages and disadvantages of the two experimental methods were compared. Results there was no significant difference in the distribution of different genotypes of VDR gene ApaI locus SNP between the case group and the control group (x2, 0.113, P0.05). There was no significant difference in the distribution of different genotypes of BsmI SNP between the case group and the control group (x2, 0.192, P0.05). There was a significant difference in the distribution of different genotypes of FokI SNP between the case group and the control group (x2, 13.716, P 0.05). There was no significant difference in the distribution of different genotypes of SNP between the case group and the control group (x2? 1.022, P0.05). There was a significant difference between the), TaqI technique and the PCR-RFLP method. Conclusion there was no significant correlation between SNP of ApaI,BsmI,TaqI locus of VDR gene and rickets in Dongxiang nationality infants, but SNP of FokI locus was associated with rickets. The frequency of genotype T was significantly higher than that of genotype C in the case group. HRM technique is more sensitive and accurate than PCR-RFLP method in the study of VDR gene polymorphism and genetic susceptibility to rickets.
【學位授予單位】:蘭州大學
【學位級別】:碩士
【學位授予年份】:2012
【分類號】:R723
本文編號:2470937
[Abstract]:Objective to study the relationship between single nucleotide polymorphism (SNP) of vitamin D receptor (VDR) gene and vitamin D deficiency rickets (rickets) in infants of Dongxiang nationality, and to explore the genetic susceptibility of the disease in Dongxiang nationality according to the geographical and climatic characteristics of Dongxiang nationality. Two methods were used to detect genotype and gene frequency, and their sensitivity and accuracy were compared to provide technical support for related research. Methods 69 cases of rickets of Dongxiang nationality and 72 cases of healthy children of Dongxiang nationality were selected as case group and control group by case-control study. High resolution fusion curve analysis (HRM) was used to detect SNP genotype at ApaI,BsmI,FokI,TaqI locus of VDR gene in different samples of each group, and x2 test was used to compare the distribution frequency of each genotype in the two groups. Thus, the relationship between the four loci of VDR gene SNP and rickets in infants of Dongxiang nationality was obtained. In addition, polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the ApaI genotype of VDR gene polymorphism. The sensitivity and accuracy of the results of PCR-RFLP and HRM were verified by gene sequencing. The advantages and disadvantages of the two experimental methods were compared. Results there was no significant difference in the distribution of different genotypes of VDR gene ApaI locus SNP between the case group and the control group (x2, 0.113, P0.05). There was no significant difference in the distribution of different genotypes of BsmI SNP between the case group and the control group (x2, 0.192, P0.05). There was a significant difference in the distribution of different genotypes of FokI SNP between the case group and the control group (x2, 13.716, P 0.05). There was no significant difference in the distribution of different genotypes of SNP between the case group and the control group (x2? 1.022, P0.05). There was a significant difference between the), TaqI technique and the PCR-RFLP method. Conclusion there was no significant correlation between SNP of ApaI,BsmI,TaqI locus of VDR gene and rickets in Dongxiang nationality infants, but SNP of FokI locus was associated with rickets. The frequency of genotype T was significantly higher than that of genotype C in the case group. HRM technique is more sensitive and accurate than PCR-RFLP method in the study of VDR gene polymorphism and genetic susceptibility to rickets.
【學位授予單位】:蘭州大學
【學位級別】:碩士
【學位授予年份】:2012
【分類號】:R723
【參考文獻】
相關期刊論文 前6條
1 陳瑞英,冷興文,阿麗亞,李紅,蔣銀花,陶國樞,張紅紅,劉建偉,高宇紅;我國哈薩克族與漢族維生素D受體基因多態(tài)性的分布[J];第四軍醫(yī)大學學報;2001年08期
2 馬桂芬,趙國軍;甘肅東鄉(xiāng)族人口變遷、分布及特點[J];西北人口;2005年06期
3 李衛(wèi)國;劉麗君;李湘津;周曉菊;楊慧;李宇寧;;維生素D受體基因多態(tài)性與維生素D缺乏性佝僂病遺傳關聯(lián)性Meta分析[J];中國循證兒科雜志;2011年04期
4 羅雄燕;陳龍;袁國華;;維生素D受體基因多態(tài)性與系統(tǒng)性紅斑狼瘡研究進展[J];實用醫(yī)院臨床雜志;2011年02期
5 李俊紅;陳冬梅;李卓;劉英;高冀榮;曾憲嘉;鐘崇芳;朱席林;勾春燕;潘利;單晶;郭新會;李輝;;維生素D受體基因多態(tài)性與乙型肝炎病毒感染的關聯(lián)研究[J];中華醫(yī)學遺傳學雜志;2006年04期
6 張紅紅;牟小芬;孟秀梅;高宇紅;劉建偉;吳青;胡亞卓;陳瑞英;冷興文;陶國樞;;漢族和蒙古族維生素D受體基因多態(tài)性分布的研究[J];中國老年學雜志;2006年06期
,本文編號:2470937
本文鏈接:http://sikaile.net/yixuelunwen/eklw/2470937.html
最近更新
教材專著