UGT1A1基因突變與廣西來賓、那坡地區(qū)壯漢民族新生兒高膽紅素血癥的關(guān)系研究
發(fā)布時間：2018-07-27 09:26
【摘要】：第一部分UGT1A1基因多態(tài)性與廣西來賓地區(qū)壯漢民族新生兒高膽紅素血癥關(guān)系的研究 目的：對廣西來賓地區(qū)部分壯族、漢族以及壯漢混合民族新生兒進行尿苷二磷酸葡萄糖醛酸轉(zhuǎn)移酶1A1(UGT1A1)基因多態(tài)性分析,以探討廣西來賓地區(qū)壯漢民族新生兒UGT1A1基因多態(tài)性與新生兒高膽紅素血癥關(guān)系,并通過不同民族間的橫向?qū)Ρ?分析不同民族間UGT1A1基因多態(tài)性是否存在差異。 方法：對2011年6月至2012年6月廣西來賓市人民醫(yī)院新生兒科收治的147例病因不明的高膽紅素血癥新生兒(病例組)和73例非高膽紅素血癥新生兒(對照組)的UGT1A1基因第1及第4外顯子進行PCR擴增、凝膠電泳、基因測序。采用卡方檢驗比較兩組間以及不同民族間的等位基因頻率差異,對病例組中G71R各基因型的TSB均值比較采用t檢驗,logistic回歸分析TSB342μmol/L的危險因素。 結(jié)果：兩組在第1外顯子中只發(fā)現(xiàn)G71R基因突變,第4外顯子發(fā)現(xiàn)任何突變類型。兩組G71R等位基因頻率分別為0.204和0.034,高膽紅素血癥新生兒的G71R基因頻率高于非高膽紅素血癥新生兒,差異有統(tǒng)計學(xué)意義(P0.001)。高膽紅素血癥新生兒中壯族、漢族、混合民族的G71R等位基因頻率分別為0.19,0.27,0.20,差異無統(tǒng)計學(xué)意義。G71R純合子突變的TSB均值高于雜合子及野生型組,G71R純合子突變發(fā)生TSB342μmol/L的OR為19.000,95%可信區(qū)間為(1.989,181.469)。 結(jié)論：廣西來賓地區(qū)新生兒UGT1A1基因第1外顯子可能只存在G71R基因突變,第4外顯子可能不存任何突變類型。G71R基因突變與廣西來賓地區(qū)新生兒高膽紅素血癥的發(fā)生相關(guān)。但是不同民族(壯族、漢族、混合民族)新生兒UGT1A1基因在G71R錯義突變基因頻率上無明顯差別。G71R可能會使高膽紅素血癥患兒的血清膽紅素水平進一步升高,且G71R純合子發(fā)生TSB342μmol/L的危險性是野生型的19倍。 第二部分廣西黑衣壯族新生兒高膽紅素血癥與UGT1A1基因多態(tài)性的關(guān)系研究 目的：對廣西地區(qū)黑衣壯族高膽紅素血癥新生兒UGT1A1基因多態(tài)性進行檢測,探討UGT1A1基因突變是否為廣西黑衣壯族新生兒不明原因高膽紅素血癥發(fā)生的因素。 方法：對來自廣西那坡縣人民醫(yī)院的179例(112例病因不明的高膽紅素血癥新生兒和67例正常新生兒)黑衣壯族新生兒的UGT1A1基因第1及第4外顯子進行PCR擴增、凝膠電泳、基因測序,計算等位基因頻率,比較兩組間等位基因頻率差異。 結(jié)果：在兩組新生兒中只發(fā)現(xiàn)G71R基因突變,且等位基因頻率分別為0.147和0.052,差異有統(tǒng)計學(xué)意義,在兩組新生兒UGT1A1基因的第1及第4外顯子中均未發(fā)現(xiàn)其他突變類型。 結(jié)論：廣西黑衣壯族新生兒UGT1A1基因第1外顯子可能只存在G71R基因突變,第4外顯子可能不存在任何突變類型。G71R基因突變可能是黑衣壯族新生兒高膽紅素血癥發(fā)生的原因之一。廣西地區(qū)新生兒高膽紅素血癥在G71R突變等位基因頻率上,壯族、黑衣壯族及漢族間無特異性。
[Abstract]:Part one the relationship between UGT1A1 gene polymorphism and neonatal hyperbilirubinemia in Zhuang nationality, Laibin, Guangxi
Objective: to analyze the polymorphism of uridine two phosphate glucuronidase 1A1 (UGT1A1) gene polymorphism in the newborns of some Zhuang, Han and Zhuang ethnic groups in the Guangxi Laibin area, in order to explore the relationship between the UGT1A1 gene polymorphism and the neonatal Gao Dan erythropoiemia in the Guangxi Laibin region, and through the transversal between different ethnic groups. To compare the differences of UGT1A1 gene polymorphisms among different nationalities.
Methods: 147 neonates with unidentified hyperbilirubinemia (case group) and 73 cases of non high bilirubinemia (control group) were treated with PCR amplification, gel electrophoresis and gene sequencing in 147 neonates with unknown etiology and 73 cases of non hyperbilirubinemia (control group) from June 2011 to June 2012 in Guangxi Laibin People's Hospital. The difference of allele frequency between groups and among different nationalities was used to compare the TSB mean of G71R genotypes in the case group by t test, and the risk factors of TSB342 micron mol/L were analyzed by logistic regression.
Results: only G71R gene mutation was found in first exons, and fourth exons found any type of mutation. The frequency of G71R allele in two groups was 0.204 and 0.034 respectively. The G71R gene frequency of hyperbilirubinemia newborns was higher than that of non hyperbilirubinemia newborns. The difference was statistically significant (P0.001). The G71R allele frequencies of ethnic, Han, and mixed ethnic groups were 0.19,0.27,0.20 respectively, and there was no significant difference in the difference between.G71R homozygote mutation and the heterozygote and the wild type. The OR of the G71R homozygote mutation was TSB342 mol/L OR as the 19.000,95% confidence interval (1.989181.469).
Conclusion: the UGT1A1 gene first exon of newborns in the Guangxi Laibin area may only have G71R gene mutation. Fourth exon may not have any mutation type.G71R gene mutation related to the occurrence of hyperbilirubinemia in the newborns of Guangxi Lai bin area. But the UGT1A1 gene of different ethnic groups (Zhuang, Han, mixed nationality) in the G71R missense There is no obvious difference in the frequency of mutation gene.G71R, which may increase the level of serum bilirubin in children with hyperbilirubinemia, and the risk of G71R homozygote occurrence of TSB342 mu mol/L is 19 times as high as that of the wild type.
The second part is the relationship between UGT1A1 gene polymorphism and neonatal hyperbilirubinemia in Guangxi Zhuang nationality.
Objective: to detect the polymorphism of UGT1A1 gene in neonate with hyperbilirubinemia in Guangxi and to explore whether the mutation of UGT1A1 gene is the factor of unexplained hyperbilirubinemia in Guangxi black clothes Zhuang newborns.
Methods: the UGT1A1 gene first and the 4 exon of 179 cases (112 cases of hyperbilirubinemia and 67 normal newborns) from the people's Hospital of Napo County, Guangxi, were amplified by PCR, gel electrophoresis, gene sequencing, and the frequency of allele frequencies were calculated, and the difference of allele frequencies between the two groups was compared.
Results: only G71R gene mutations were found in the two groups of newborns, and the allele frequencies were 0.147 and 0.052, respectively. The difference was statistically significant. No other mutations were found in the two groups of the two groups of newborns in the first and 4 exons.
Conclusion: the UGT1A1 gene first exon first may only have G71R gene mutation. Fourth exon may not have any mutation type.G71R gene mutation may be one of the causes of hyperbilirubinemia in the black clothes Zhuang newborns. The neonatal Gao Dan erythropoiemia in the Guangxi region is on the G71R mutation allele frequency. There is no specificity between the Zhuang, the black clothes Zhuang and the Han nationality.
【學(xué)位授予單位】：廣西醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2013
【分類號】：R722.17
本文編號：2147366
[Abstract]:Part one the relationship between UGT1A1 gene polymorphism and neonatal hyperbilirubinemia in Zhuang nationality, Laibin, Guangxi
Objective: to analyze the polymorphism of uridine two phosphate glucuronidase 1A1 (UGT1A1) gene polymorphism in the newborns of some Zhuang, Han and Zhuang ethnic groups in the Guangxi Laibin area, in order to explore the relationship between the UGT1A1 gene polymorphism and the neonatal Gao Dan erythropoiemia in the Guangxi Laibin region, and through the transversal between different ethnic groups. To compare the differences of UGT1A1 gene polymorphisms among different nationalities.
Methods: 147 neonates with unidentified hyperbilirubinemia (case group) and 73 cases of non high bilirubinemia (control group) were treated with PCR amplification, gel electrophoresis and gene sequencing in 147 neonates with unknown etiology and 73 cases of non hyperbilirubinemia (control group) from June 2011 to June 2012 in Guangxi Laibin People's Hospital. The difference of allele frequency between groups and among different nationalities was used to compare the TSB mean of G71R genotypes in the case group by t test, and the risk factors of TSB342 micron mol/L were analyzed by logistic regression.
Results: only G71R gene mutation was found in first exons, and fourth exons found any type of mutation. The frequency of G71R allele in two groups was 0.204 and 0.034 respectively. The G71R gene frequency of hyperbilirubinemia newborns was higher than that of non hyperbilirubinemia newborns. The difference was statistically significant (P0.001). The G71R allele frequencies of ethnic, Han, and mixed ethnic groups were 0.19,0.27,0.20 respectively, and there was no significant difference in the difference between.G71R homozygote mutation and the heterozygote and the wild type. The OR of the G71R homozygote mutation was TSB342 mol/L OR as the 19.000,95% confidence interval (1.989181.469).
Conclusion: the UGT1A1 gene first exon of newborns in the Guangxi Laibin area may only have G71R gene mutation. Fourth exon may not have any mutation type.G71R gene mutation related to the occurrence of hyperbilirubinemia in the newborns of Guangxi Lai bin area. But the UGT1A1 gene of different ethnic groups (Zhuang, Han, mixed nationality) in the G71R missense There is no obvious difference in the frequency of mutation gene.G71R, which may increase the level of serum bilirubin in children with hyperbilirubinemia, and the risk of G71R homozygote occurrence of TSB342 mu mol/L is 19 times as high as that of the wild type.
The second part is the relationship between UGT1A1 gene polymorphism and neonatal hyperbilirubinemia in Guangxi Zhuang nationality.
Objective: to detect the polymorphism of UGT1A1 gene in neonate with hyperbilirubinemia in Guangxi and to explore whether the mutation of UGT1A1 gene is the factor of unexplained hyperbilirubinemia in Guangxi black clothes Zhuang newborns.
Methods: the UGT1A1 gene first and the 4 exon of 179 cases (112 cases of hyperbilirubinemia and 67 normal newborns) from the people's Hospital of Napo County, Guangxi, were amplified by PCR, gel electrophoresis, gene sequencing, and the frequency of allele frequencies were calculated, and the difference of allele frequencies between the two groups was compared.
Results: only G71R gene mutations were found in the two groups of newborns, and the allele frequencies were 0.147 and 0.052, respectively. The difference was statistically significant. No other mutations were found in the two groups of the two groups of newborns in the first and 4 exons.
Conclusion: the UGT1A1 gene first exon first may only have G71R gene mutation. Fourth exon may not have any mutation type.G71R gene mutation may be one of the causes of hyperbilirubinemia in the black clothes Zhuang newborns. The neonatal Gao Dan erythropoiemia in the Guangxi region is on the G71R mutation allele frequency. There is no specificity between the Zhuang, the black clothes Zhuang and the Han nationality.
【學(xué)位授予單位】：廣西醫(yī)科大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2013
【分類號】：R722.17
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