先天性白内障一家系晶状体蛋白突变基因筛查.pdfVIP

眼科研 究2010年 1月第 28卷第 1期 83 · · 调 查 研 究 · 先天性 白内障一家系晶状体蛋 白突变基因筛查 李娟娟 黎 铧 胡竹林 Screen of crystallin protein mutation genes in a hereditary congenital cataractfamily LiJuanjuan，LiHua，HuZhulin．DepartmentofOphthalmology，YunnanRedCrossHospital，Kunming650021，China Abstract Background W ith thedevelopmentofbiologicaltechniques，thestudyon thepathogenesisofdisease—causing genesofcongenitalcataractshassubstantialprogress．Somepositiveresultsofscreenofmutationgeneincongenitalcataractfamily hasbeenreported，butthereportofnegativeresultisrate． 0haective Thepresentstudyattemptstoscreenthemutationof CRYAA，CRYAB，CRYA1／A3，CRYBB2，CRYGC andCRYGD geneinaChinesefamilywithautosomaldominantcongenitalcataract． M ethods Theperipherybloodsampleswereexactedfrom 8patientsof4 generationsofwithcongenitalcataractinthisfamily． Thecompletecodingregion and intronspliced sitesofCRYAA，CRYAB，CRYA1／A3，CRYBB2，CRYGC andCRYGD wereamplified withpolymerasechainreaction(PCR)，andtheproductsofPCRweredirectlysequenced．Thecontrolbloodsampleswerefrom 10 normalsubjects．ThisstudyfollowedtheDeclarationofHelsinki．Writteninformedconsentwasobtainedfromallofthepatients． Results Thepatientswerefound in each generation in thisfamily and themodeofinheritancewasin accordancewith the characteristicofautosomaldominantinheritance．The sequenceofamplifiedgeneticfragmentsofCRYAA，CRYAB，CRYA1／A3， CRYBB2，CRYGCandCRYGDgeneswereinaceordaneewiththoseofnormalsabjeetsandGeneBank．Noanymutationlociwas fnundinallofthepatientsofthisfamily． Conclusion CRYAA，CRYAB，CRYA1／A3，CRYBB2，CRYGC andCRYGD genesisnot thecausing—diseasegenesin thisfamily． Keywords congenitalcataract；crystallin protein；genemutation 摘要 目的 对先天性 白内障一家系进行晶状体蛋 白致病基 因的初步筛查。 方法 通过聚合酶链反应 (PCR)对 先天性 白内障一家系中4代 8例 患者进行 CRYAA、CRYAB、CRYA1／A3、CRY