avellino角膜营养不良家系的βigh3基因突变分析word格式论文.docxVIP

Avellino角膜营养不良家系的βIGH3基因突变研究摘要目的：研究Avellino角膜营养不良（Avellino cornealdystrophy,ACD）一个家系的临床表现及其βIGH3 基因突变的类型。方法：采集该家系5代75人病史，按顺序进行视力、裂隙灯显微镜、外眼照相、眼底、眼前节光学相干断层扫描（anteriorsegmentopticalcoherencetomography,AS-OCT）检查，应用聚合酶链反应(polymerasechainreaction，PCR)并结合DNA测序技术进行βIGH3基因第4、11 和12 外显子突变的检测。结果：该家系成员5代75人，包括22例患者和53例正常人，发病率为44.89%。22例患者中现存18例，平均年龄为44.39±11.68岁。该家系患者共同特点：双眼受累，表现为反复的眼痛、眼红、畏光、视力下降等症状，出现视力下降的平均年龄为23.17±8.56岁，随年龄的增加角膜混浊程度及视力下降逐渐加重，50岁后视力均在0.1以下。ACD临床特征为角膜基质层颗粒状及格子状混浊。AS-OCT显示角膜病灶位于角膜上皮层及浅、中基质层。基因检测发现该家系患者βIGH3基因第4外显子370位点碱基C→T，即R124C突变。家系中正常成员无该位点的基因突变。结论：R124C突变与ACD的发生有关，该基因的突变可导致不同类型角膜营养不良的发生。关键词：Avellino角膜营养不；βIGH3 基因；R124C；基因突变StudyofTGFBIGene Mutationin aChinesePedigreewithAvellinoCornealDystrophyAbstractObjective：TostudytheclinicalmanifestationsandthemoleculardefectsintheβIGH3geneinaChinesefamilywith AvellinoCornealdystrophy(ACD).Methods：Fivegenerations(75subjects)ofthefamilywithACDwereenrolledinthepresentstudy.Adetailedfamilyhistorywascollected.Allsubjectswereunderwenttheexaminationssequentiallyasfollows:visionactivity,slitlampmicroscopeexamination, ocularfundusexaminationandanteriorsegmentopticalcoherencetomography (AS-OCT).Polymerasechainreaction(PCR)amplificationandnucleotidesequencingof exons4,11and12ofβIGH3wereperformed.Results：Thenumberoffamilyis75membersin5generations,including22patientsand53 normalpersons.Themorbidityis44.89%(picture1).18in22patientswhichmeanagewas44.39+11.68yearsoldexisttoday.theThepatientsinthefamilyhaveacommon characteristics:both eyesappear eye pain,photophobia, decreased visualacuity,red repeatedly.Theaverageagewhenthevisionbegandecreasingwas23.17+8.56years. Withtheincreaseofage,thedegreeofcornealopacityanddecreasedvisualacuity increasedgraduallyafter50yearsold,eyesightisbelow0.1.Theclinicalfeaturesofthediseasewerecharacterizedbygranularandlatticeopacitiesinthestromaofthecornea. AS-OCTshowedcorneallesionsweredepositedintheepitheliumandanterior-middlestroma.MoleculargeneticanalysisrevealedasingleheterozygousCTatnucleotide370 ine