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目的探讨应用分子遗传学方法对角膜营养不良进行分类的途径。方法采用聚合酶链-单链构象多态性(PCR-SSCP)分析,对18例角膜营养不良的患者进行BIGH3基因的4、11、12号外显子的突变筛查,并对发现的异常泳动带进行DNA测序,以确定突变位点。结果18例角膜营养不良均有BIGH3基因突变,其中R555W突变型6例,A546D突变型6例,R124C突变型2例,T538P突变型2例,A546T突变型1例,P501T突变型1例。结论PCR-SSCP结合DNA测序的分子遗传学方法快速、简单且灵敏,以此为基础对遗传性角膜营养不良进行分类准确可靠。
Objective To explore ways to classify corneal malnutrition using molecular genetics. Methods 18 cases of corneal malnutrition were screened by PCR-SSCP and the exon 4, 11 and 12 of BIGH3 gene were screened. Move the band for DNA sequencing to determine the mutation site. Results 18 cases of corneal dystrophy BIGH3 gene mutations, including 6 cases of R555W mutation, A546D mutation in 6 cases, R124C mutation in 2 cases, T538P mutation in 2 cases, A546T mutation in 1 case, P501T mutation in 1 case. Conclusion PCR-SSCP combined with DNA sequencing of molecular genetics method is fast, simple and sensitive, based on which the classification of hereditary corneal dystrophy accurately and reliably.