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(guān)性研究
發(fā)布時(shí)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(guān)性,結(jié)合當(dāng)?shù)氐乩須夂蛱攸c(diǎn),探討東鄉(xiāng)族該病的遺傳易感性。運(yùn)用兩種檢測(cè)基因型和基因頻率的方法進(jìn)行實(shí)驗(yàn),并比較其靈敏度和精確度,為相關(guān)研究提供技術(shù)支持。 方法采用病例對(duì)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(duì)照組,應(yīng)用高分辨率熔解曲線分析(HRM)技術(shù)檢測(cè)各組不同樣本VDR基因ApaI、BsmI、FokI、TaqI位點(diǎn)SNP基因型,運(yùn)用x2檢驗(yàn)比較兩組中各基因型的分布頻率,從而得出VDR基因這四個(gè)位點(diǎn)SNP與東鄉(xiāng)族嬰幼兒佝僂病的關(guān)系。另外運(yùn)用聚合酶鏈反應(yīng)—限制性片段長(zhǎng)度多態(tài)性(PCR-RFLP)方法檢測(cè)VDR基因多態(tài)性ApaI位點(diǎn)基因型,通過(guò)基因測(cè)序驗(yàn)證其檢測(cè)結(jié)果與HRM技術(shù)檢測(cè)結(jié)果的靈敏性與準(zhǔn)確性,比較兩種實(shí)驗(yàn)方法的優(yōu)劣。 結(jié)果東鄉(xiāng)族嬰幼兒的VDR基因ApaI位點(diǎn)SNP的不同基因型在病例組和對(duì)照組中的分布差異無(wú)統(tǒng)計(jì)學(xué)意義(x2=0.113,P0.05),BsmI位點(diǎn)SNP的不同基因型在病例組和對(duì)照組中的分布差異無(wú)統(tǒng)計(jì)學(xué)意義(x2=0.192,P0.05)FokI位點(diǎn)SNP的不同基因型在病例組和對(duì)照組中的分布差異有統(tǒng)計(jì)學(xué)意義(x2=13.716,P0.05),TaqI位點(diǎn)SNP的不同基因型在病例組和對(duì)照組中的分布差異無(wú)統(tǒng)計(jì)學(xué)意義(x2=1.022,P0.05)。HRM技術(shù)與PCR-RFLP方法的檢測(cè)結(jié)果有明顯差異。 結(jié)論東鄉(xiāng)族嬰幼兒VDR基因ApaI、BsmI、TaqI位點(diǎn)SNP與佝僂病發(fā)生無(wú)明顯相關(guān)性,FokI位點(diǎn)SNP與佝僂病發(fā)病有關(guān),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(shù)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(xué)位授予單位】：蘭州大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2012
【分類號(hào)】：R723
本文編號(hào)：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(xué)位授予單位】：蘭州大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2012
【分類號(hào)】：R723
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