G6PD缺陷症基因型分析一种新的错义突变.pdf

上海交通大学学报(医学版) ·698· Journalof V01．30No．6 ShanghaiJiaotongUniversity(MedicalScience) Jun．2010 文章编号：1674-8115(2010)06—0698—05 ·论 著· G6PD缺陷症基因型分析：一种新的错义突变 王也飞1。夏文权1。倪培华1，胡翊群1．姜叙诚2 (上海交通大学1．医学院瑞金医院检验系，2．基础医学院病理学教研室，上海200025) G1388A(26．5％)、 子2一13进行序列分析。结景49例G6PD缺陷症患者中，共发现12种错义突变，其中常见的三种为G6PD G6PD活性降低，患者临床出现溶血症状的主要原因。 关键词：葡萄糖岳磷酸脱氢酶；错义突变；G691C；Ala23lPro 中图分类号：R596；Q78 文献标志码：A of mutations：anovelmissense Analysisglucose-6-phosphatedehydrogenasegene muta．tion WANG Ye．feil，XIA Pei．hual，HU Wen．quanl，NI Yi—qunl，JIANGXu-chen92 Medical Medical rJ．Facultyof LaboratoryScience，RuijinHospital，SchoolofMedicine，2．DepartmentofPathology,Basic College,ShanghaiUniversity,Shanghai200025，China) Jiaotong To the of mutationsin with Abstract：Objectiveanalysetypesglucose-6一phosphatedehydrogenase(G6PD)genepatients G6PD MethodsTheblood of49 withG6PD and100normal confirmed deficiency． samplespatients deficiency subjects G6PD detectionwere was on12exonsfrom2to13 PCRandDNA by activity collected．Sequenceanalysisperformed by Results differentmissenseG6PDmutationswere thethreemostcommonmutations sequencing． Twelve detected，and wereG6PD G6PD oftheseindividualswas5％ G1388A(26．5％)，G1376T(28．6％)andA95G(14．3％)．Theactivity to18％ofthatofnormal clinicalmanifestationsofthese wereacute anemia subjeels．The subjects hemolytictriggedby oflavabeanandneonatal othermutationsin