中华肝脏病杂志
中華肝髒病雜誌
중화간장병잡지
CHINESE JOURNAL OF HEPATOLOGY
2015年
1期
13-16
,共4页
宁会彬%李宽%毛重山%刘俊平%肖二辉%康谊%尚佳
寧會彬%李寬%毛重山%劉俊平%肖二輝%康誼%尚佳
저회빈%리관%모중산%류준평%초이휘%강의%상가
肝炎,乙型,慢性%基因突变%基因诊断%Gilbert综合征
肝炎,乙型,慢性%基因突變%基因診斷%Gilbert綜閤徵
간염,을형,만성%기인돌변%기인진단%Gilbert종합정
Hepatitis B,chronic%Gene mutation%Gene diagnosis%Gilbert syndrome
目的 探讨慢性乙型肝炎合并Gilbert综合征患者的临床特点及其基因突变位点分析.方法 对33例慢性乙型肝炎合并Gilbert综合征患者的肝脏生物化学指标、病理组织学特点及基因检测位点分析,对基因检测结果根据不同突变位点进行分析,数据分析应用x2检验和t检验. 结果 33例患者Gilbert综合征特异性编码的UGT1A1基因检测显示突变位点集中表现在启动子上游PBREM-3263 (-3279)突变(23例)和启动子TATA盒TA插入突变(21例),以及编码区外显子EXON1上的GGA-AGA Gly71Arg突变(18例),3个常见位点突变之间差异无统计学意义(x2=1.640,P＞ 0.05).结论 慢性乙型肝炎合并Gilbert综合征患者诊断依靠传统方法仍比较困难,而基因检测为该疾病的诊断提供了更有利的帮助.
目的 探討慢性乙型肝炎閤併Gilbert綜閤徵患者的臨床特點及其基因突變位點分析.方法 對33例慢性乙型肝炎閤併Gilbert綜閤徵患者的肝髒生物化學指標、病理組織學特點及基因檢測位點分析,對基因檢測結果根據不同突變位點進行分析,數據分析應用x2檢驗和t檢驗. 結果 33例患者Gilbert綜閤徵特異性編碼的UGT1A1基因檢測顯示突變位點集中錶現在啟動子上遊PBREM-3263 (-3279)突變(23例)和啟動子TATA盒TA插入突變(21例),以及編碼區外顯子EXON1上的GGA-AGA Gly71Arg突變(18例),3箇常見位點突變之間差異無統計學意義(x2=1.640,P＞ 0.05).結論 慢性乙型肝炎閤併Gilbert綜閤徵患者診斷依靠傳統方法仍比較睏難,而基因檢測為該疾病的診斷提供瞭更有利的幫助.
목적 탐토만성을형간염합병Gilbert종합정환자적림상특점급기기인돌변위점분석.방법 대33례만성을형간염합병Gilbert종합정환자적간장생물화학지표、병리조직학특점급기인검측위점분석,대기인검측결과근거불동돌변위점진행분석,수거분석응용x2검험화t검험. 결과 33례환자Gilbert종합정특이성편마적UGT1A1기인검측현시돌변위점집중표현재계동자상유PBREM-3263 (-3279)돌변(23례)화계동자TATA합TA삽입돌변(21례),이급편마구외현자EXON1상적GGA-AGA Gly71Arg돌변(18례),3개상견위점돌변지간차이무통계학의의(x2=1.640,P＞ 0.05).결론 만성을형간염합병Gilbert종합정환자진단의고전통방법잉비교곤난,이기인검측위해질병적진단제공료경유리적방조.
Objective To explore the clinical features and gene mutation profiles of patients with chronic hepatitis B (CHB) and Gilbert's syndrome.Methods Thirty-three patients with CHB and Gilbert's syndrome were enrolled in the study.Serum markers of liver function and histological features of diseaserelated liver injury were assessed by standard methods.Gene mutations were detected by PCR and direct DNA sequencing.Statistical analysis was carried out with the chi-square and t tests.Results Sequencing of the Gilbert syndrome-associated gene,UGT 1A 1,revealed mutations in the upstream promoter phenobarbitalresponsive element module (PBREM) (-3279 mutation,23 cases),in the promoter TATA box (a TA insertion mutation,21 cases),and in the coding region ofexon 1 (a GGA-AGA Gly71Arg mutation,18 cases); there was no statistical difference found for any of the three mutations among this patient population (x2 =1.640,P ＞ 0.05).Conclusion The traditional methods of diagnosis for patients with CHB and Gilbert's syndrome remain a technical challenge in the clinic,and gene detection may represent a more favorable method for diagnosing this patient population.
