淋巴增生性疾病相關(guān)基因FAS、FASLG、SH2D1A及XIAP變異型和臨床表現(xiàn)
發(fā)布時(shí)間：2019-04-20 08:48
【摘要】：目的：探討兒童淋巴增生性疾病(LPDs)的相關(guān)基因FAS.FASLG.SH2D1A及XIAP變異與臨床表現(xiàn)的關(guān)系。 方法：收集2008-2011年在我院就診的長期不明原因發(fā)熱,具有淋巴細(xì)胞增生表現(xiàn)的5名患兒,其中2例同時(shí)符合噬血細(xì)胞綜合征(HLH)臨床診斷標(biāo)準(zhǔn),但化療效果差；采集外周血提取DNA,進(jìn)行PCR擴(kuò)增與DNA序列分析獲得基因突變信息；同時(shí)對其進(jìn)行回顧性臨床特點(diǎn)分析。 結(jié)果：5例患兒FAS、FASLG、SH2D1A和XIAP基因外顯子全部擴(kuò)增成功并進(jìn)行直接序列分析。發(fā)現(xiàn)4例患兒FAS基因發(fā)生突變,包括拼接位點(diǎn)突變1例,4號外顯子突變1例,9號外顯子突變2例,此外檢出7號外顯子同義突變5例。FASLG、SH2D1A和XIAP基因未檢出突變。 結(jié)論：1.FAS基因突變臨床表現(xiàn)多樣化,有部分表現(xiàn)為HLH；2.FAS基因突變臨床癥狀嚴(yán)重程度與突變位點(diǎn)之間有一定關(guān)系,但本組例數(shù)偏少,尚需進(jìn)一步研究；3.臨床表現(xiàn)為HLH的FAS基因突變者預(yù)后差,HLH-2004方案化療可暫時(shí)緩解,停藥后易復(fù)發(fā),提示造血干細(xì)胞移植可能是必要的治療方法。
[Abstract]:Objective: to investigate the relationship between FAS.FASLG.SH2D1A and XIAP mutations of (LPDs) gene and clinical manifestations in children with lymphoproliferative diseases. Methods: from 2008 to 2011, 5 children with long-term fever of unknown origin and lymphocytic hyperplasia were collected. Two of them met the clinical diagnostic criteria of hemophagocytic syndrome (HLH) at the same time, but the effect of chemotherapy was poor. DNA, was extracted from peripheral blood for PCR amplification and DNA sequence analysis to obtain gene mutation information, and the clinical features were analyzed retrospectively. Results: the exons of FAS,FASLG,SH2D1A and XIAP gene were amplified successfully and analyzed by direct sequence analysis in 5 children. Mutations in FAS gene were found in 4 children, including splicing site mutation in 1 case, exon 4 mutation in 1 case, exon 9 mutation in 2 cases, and synonymous mutation in exon 7 in 5 cases. No mutations were detected in FASLG, SH2D1A and XIAP genes. Conclusion: the clinical manifestations of 1.FAS gene mutation are diversified, some of them show that the severity of clinical symptoms of HLH;2.FAS gene mutation is related to the mutation site, but the number of cases in this group is relatively small, which needs further study. The prognosis of patients with FAS gene mutation of HLH is poor. HLH-2004 chemotherapy can relieve the disease temporarily and relapse easily after drug withdrawal. It is suggested that hematopoietic stem cell transplantation may be a necessary treatment method.
【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】：2012
【分類號】：R725.5
本文編號：2461463
[Abstract]:Objective: to investigate the relationship between FAS.FASLG.SH2D1A and XIAP mutations of (LPDs) gene and clinical manifestations in children with lymphoproliferative diseases. Methods: from 2008 to 2011, 5 children with long-term fever of unknown origin and lymphocytic hyperplasia were collected. Two of them met the clinical diagnostic criteria of hemophagocytic syndrome (HLH) at the same time, but the effect of chemotherapy was poor. DNA, was extracted from peripheral blood for PCR amplification and DNA sequence analysis to obtain gene mutation information, and the clinical features were analyzed retrospectively. Results: the exons of FAS,FASLG,SH2D1A and XIAP gene were amplified successfully and analyzed by direct sequence analysis in 5 children. Mutations in FAS gene were found in 4 children, including splicing site mutation in 1 case, exon 4 mutation in 1 case, exon 9 mutation in 2 cases, and synonymous mutation in exon 7 in 5 cases. No mutations were detected in FASLG, SH2D1A and XIAP genes. Conclusion: the clinical manifestations of 1.FAS gene mutation are diversified, some of them show that the severity of clinical symptoms of HLH;2.FAS gene mutation is related to the mutation site, but the number of cases in this group is relatively small, which needs further study. The prognosis of patients with FAS gene mutation of HLH is poor. HLH-2004 chemotherapy can relieve the disease temporarily and relapse easily after drug withdrawal. It is suggested that hematopoietic stem cell transplantation may be a necessary treatment method.
【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】：2012
【分類號】：R725.5
【參考文獻(xiàn)】
相關(guān)期刊論文 前3條
1 劉振奎;李世陽;賈文翠;魏阿平;;自身免疫性淋巴增生綜合征一例[J];江蘇醫(yī)藥;2007年09期
2 朱德新;杜江;蘭和魁;余力;封志純;;X-連鎖淋巴細(xì)胞異常增生癥一個(gè)中國人家系的臨床和基因研究[J];中華醫(yī)學(xué)雜志;2007年04期
3 黃禮彬;張麗丹;柯志勇;徐玲玲;劉茵;王卓;羅學(xué)群;;自身免疫性淋巴細(xì)胞增殖綜合征1例報(bào)告并文獻(xiàn)復(fù)習(xí)[J];中國實(shí)用兒科雜志;2011年02期
相關(guān)碩士學(xué)位論文 前2條
1 楊曦;X-連鎖淋巴細(xì)胞異常增生癥的臨床、基因和蛋白分析[D];重慶醫(yī)科大學(xué);2011年
2 謝云;漢族正常和B-NHL人群caspase 3、Fas基因多態(tài)性與突變的研究及與B-NHL發(fā)病關(guān)系的初步探討[D];浙江大學(xué);2004年
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