胆盐输出泵基因突变在特发性婴儿肝炎肝内胆汁淤积中的意义
发布时间：2019-06-07 14:36
【摘要】：目的：对特发性婴儿肝炎肝内胆汁淤积患儿的BSEP基因进行筛查,初步探讨胆盐输出泵基因与特发性婴儿肝炎肝内胆汁淤积的关系。 方法：收集2009年10月至2011年02月于广西医科大学第一附属医院儿科住院的特发性婴儿肝炎肝内胆汁淤积的患儿115例作为病例组,60例无胆汁淤积婴儿作为对照组,应用聚合酶链反应-单链构象多态性分析(PCR-SSCP)方法对BSEP基因上的7、8、11、12、14、15、18、21、26外显子进行检测。对有异常条带的外显子进行测序,结果在Genbank基因库上进行序列比较。 结果：在2例患儿BSEP基因的第7外显子上检测到相同未报道的杂合突变c.499GT,导致基因编码的BSEP蛋白的第167位丙氨酸(Ala)被丝氨酸(Ser)所替代(p.A167S)。该位点的突变未在其余病人与对照组中检测出。 结论：本研究在特发性婴儿肝炎胆汁淤积患儿的BSEP基因第7外显子上发现一个新的错义突变A167S。A167S可能在婴儿特发性肝炎肝内胆汁淤积的发生机制中发挥一定的作用,并可能对突变相关类型的肝内胆汁淤积的预后有一定的指导意义。
[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.
【学位授予单位】：广西医科大学
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R725.7
本文编号：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.
【学位授予单位】：广西医科大学
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R725.7
【参考文献】
相关期刊论文 前3条
1 王吉耀,涂传涛;重视胆汁淤积的分子机制和药物治疗研究[J];胃肠病学;2005年04期
2 邓亚楠;王琳琳;唐清;陈秀奇;陈萍;单庆文;连淑君;云翔;;胆盐输出泵基因V444A与特发性婴儿肝炎肝内胆汁淤积的关系[J];世界华人消化杂志;2011年01期
3 曹云海;陈熙;张程;石嫦娥;徐德祥;许建明;;利福平对小鼠肝细胞胆汁酸转运体Bsep和Mrp2表达与定位的影响[J];中国药理学通报;2010年12期
相关博士学位论文 前1条
1 刘玉凌;胆汁淤积基因在妊娠期肝内胆汁淤积症发病机制和在异常胎盘胆汁酸排泌机制中作用的研究[D];华中科技大学;2006年
，本文编号：2494871
本文链接：https://www.wllwen.com/yixuelunwen/eklw/2494871.html
最近更新
教材专著
