膽鹽輸出泵基因突變在特發(fā)性嬰兒肝炎肝內膽汁淤積中的意義
發(fā)布時間：2019-06-07 14:36
【摘要】：目的：對特發(fā)性嬰兒肝炎肝內膽汁淤積患兒的BSEP基因進行篩查,初步探討膽鹽輸出泵基因與特發(fā)性嬰兒肝炎肝內膽汁淤積的關系。 方法：收集2009年10月至2011年02月于廣西醫(yī)科大學第一附屬醫(yī)院兒科住院的特發(fā)性嬰兒肝炎肝內膽汁淤積的患兒115例作為病例組,60例無膽汁淤積嬰兒作為對照組,應用聚合酶鏈反應-單鏈構象多態(tài)性分析(PCR-SSCP)方法對BSEP基因上的7、8、11、12、14、15、18、21、26外顯子進行檢測。對有異常條帶的外顯子進行測序,結果在Genbank基因庫上進行序列比較。 結果：在2例患兒BSEP基因的第7外顯子上檢測到相同未報道的雜合突變c.499GT,導致基因編碼的BSEP蛋白的第167位丙氨酸(Ala)被絲氨酸(Ser)所替代(p.A167S)。該位點的突變未在其余病人與對照組中檢測出。 結論：本研究在特發(fā)性嬰兒肝炎膽汁淤積患兒的BSEP基因第7外顯子上發(fā)現一個新的錯義突變A167S。A167S可能在嬰兒特發(fā)性肝炎肝內膽汁淤積的發(fā)生機制中發(fā)揮一定的作用,并可能對突變相關類型的肝內膽汁淤積的預后有一定的指導意義。
[Abstract]:Objective: to screen the BSEP gene in children with intrahepatic cholestasis in children with Idiopathic infant hepatitis and to explore the relationship between bile salt output pump gene and intrahepatic cholestasis in children with Idiopathic infant hepatitis. Methods: 115 infants with intrahepatic cholestasis of hepatitis hospitalized in the first affiliated Hospital of Guangxi Medical University from October 2009 to February 2011 were collected as case group and 60 infants without cholestasis as control group. Polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) was used to detect exons 7, 8, 11, 14, 15, 18, 21 and 26 of BSEP gene. The exons with abnormal bands were sequenced and compared on the Genbank gene bank. Results: the same unreported heterozygous mutation c.499GT was detected in exon 7 of BSEP gene in 2 children, resulting in the substitution of alanine (Ala) at position 167 of BSEP protein by serine (Ser) (p.A167S). The mutation of this site was not detected in the rest of the patients and the control group. Conclusion: a new missense mutation A167S.A167S may play an important role in the pathogenesis of intrahepatic cholestasis in infants with Idiopathic Hepatitis cholestasis. A new missense mutation A167S.A167S was found in Exon 7 of BSEP gene in children with Idiopathic Hepatitis cholestasis. It may be of guiding significance for the prognosis of mutation-related types of intrahepatic cholestasis.
【學位授予單位】：廣西醫(yī)科大學
【學位級別】：碩士
【學位授予年份】：2012
【分類號】：R725.7
本文編號：2494871
[Abstract]:Objective: to screen the BSEP gene in children with intrahepatic cholestasis in children with Idiopathic infant hepatitis and to explore the relationship between bile salt output pump gene and intrahepatic cholestasis in children with Idiopathic infant hepatitis. Methods: 115 infants with intrahepatic cholestasis of hepatitis hospitalized in the first affiliated Hospital of Guangxi Medical University from October 2009 to February 2011 were collected as case group and 60 infants without cholestasis as control group. Polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) was used to detect exons 7, 8, 11, 14, 15, 18, 21 and 26 of BSEP gene. The exons with abnormal bands were sequenced and compared on the Genbank gene bank. Results: the same unreported heterozygous mutation c.499GT was detected in exon 7 of BSEP gene in 2 children, resulting in the substitution of alanine (Ala) at position 167 of BSEP protein by serine (Ser) (p.A167S). The mutation of this site was not detected in the rest of the patients and the control group. Conclusion: a new missense mutation A167S.A167S may play an important role in the pathogenesis of intrahepatic cholestasis in infants with Idiopathic Hepatitis cholestasis. A new missense mutation A167S.A167S was found in Exon 7 of BSEP gene in children with Idiopathic Hepatitis cholestasis. It may be of guiding significance for the prognosis of mutation-related types of intrahepatic cholestasis.
【學位授予單位】：廣西醫(yī)科大學
【學位級別】：碩士
【學位授予年份】：2012
【分類號】：R725.7
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