全外显子组测序技术对两个眼前节发育不良家系致病基因检测

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1、眼科新进展2017年3月第37卷第3期ＲecAdvOphthalmolVol．37No．3March2017http://www．ykxjz．com·235·氉欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁氉欁欁引文格式:王凯，张丹，郝朋，王犁明，李宁东，李轩．全外显子组测序技术对两个眼前节发育不良家系致病基因检欁【应用研究】欁氉测［J］．眼科新进展，2017，37(3):235-238，243．doi:10．13389/j．cnki．rao．2017．0059欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁欁

2、氉全外显子组测序技术对两个眼前节发育不良家系致病△基因检测王凯张丹郝朋王犁明李宁东李轩欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞欞氉欁欁欁欁欁欁欁欁欁欁欁氉欁Diseasegenesdetectionoftwoanteriorsegmentdys-欁作者简介:王凯，男，1990年10月出欁欁生，山西阳泉人，天津医科大学硕士欁genesispedigreebywholeexomesequence欁在读，从事眼病相关研究。联系电欁WANGKai，ZHANGDan，HAOPeng，WANGLi-Ming，LINing

3、-Dong，LI欁话:022-27313336;E-mail:pop11999欁@163．com;OＲCID:0000-0002-Xuan欁欁5701-5516【Keywords】wholeexomesequence;anteriorsegmentdysgenesis;PAX6gene欁欁欁欁【Abstract】ObjectiveToidentifythedisease-causinggenemutationinfamilieswithanteriorAboutWANGKai:Male，bornin欁欁segmentdysgenesis(ASD)．Methods

4、TwoASDfamiliescomingfromHenanandHebeiprov-October，1990．Postgraduatestudent．欁Tel:+86-22-27313336;E-mail:欁inceswereenrolledinthisstudy．Ocularexaminationswereperformed，andperipherybloodspeci-欁pop11999@163．com;OＲCID:0000-欁menswerecollectedfromeachfamilymemberundertheinformedconsent．Thebl

5、oodsamplesof欁0002-5701-5516欁2patientsand1normalpersoninfamily1and1patientand1normalpersoninfamily2werean-欁欁欁欁alyzedbythewholeexomesequences．ThecandidategeneswereverifiedbySangersequenceand收稿日期:2016-11-25欁修回日期:2016-12-30欁predicteddamagesbyPolyPhen-2andSIFTHumanSplicingFindersoftware．Ｒ

6、esultsFamily1欁本文编辑:付中静欁including9patientswereexaminedinserial3passages，whichconformedtoautosomaldominant欁△基金项目:国家自然科学基金资欁inheritancepattern．Clinicalexaminationrevealedbinocularanteriorsegmentdysgenesisinthe9欁助(编号:81170884)欁patients．Therewere13SNVand55InDelcandidatemutations．Andmissen

7、semutationc．T2A欁作者单位:300020天津市，天津医欁欁科大学眼科临床学院天津市眼科欁(p．M1K)onPAX6genewasfound．Family2included8members，and2patientswereexam-欁医院天津市眼科研究所天津市眼欁ined．Thesplicingmutationc．357+1g＞conthesamegenewasfound．ConclusionT2A(p．欁科学与视觉科学重点实验室(王欁M1K)andc．357+1g＞cmutationsinPAX6geneareresponsibleforASD．W

8、holeexomese-