先天性缝性白内障一家系中晶体蛋白基因的突变筛查

目的：对一中国常染色体显性先天性缝性白内障家系进行晶体蛋白基因（CRYAA、CRYAB、CRYBB2、CRYGC、CRYGD）的突变筛查。方法：对一中国先天性白内障家系进行研究，通过直接测序，筛查此家系中全部患者的CRYAA、CRYAB、CRYBB2、CRYGC和CRYGD基因外显子以及临近的内含子的剪接位点。结果：直接测序后发现该缝性白内障家系基因的外显子及其临近的内含子中．均未发现任何突变。结论：CRYAA、CRYAB、CRYBB2、CRYGC和CRYGD为该先天性白内障家系的非致病基因。

Screen of Crystallin Protein Mutation Genes in a Hereditary Congenital Sutural Cataract Family

Objective： The present study attempts to screen the mutation of CRYAA, CRYAB, CRYBB2, CRYGC and CRYGD gene in a Chinese family with autosomal dominant congenital cataract. Methods： The periphery blood samples were extacted from all family members with congenital cataract in this family.The complete coding region and intron spliced sites of CRYAA, CRYAB, CRYBB2, CRYGC and CRYGD were amplified with polymerase chain reaction （PCR）, and the products of PCR were directly sequenced. Results： The patients were found in each generation in this family and the mode of inheritance was in accordance with the characteristic o f autosoma 1 dominant inheritance. The sequence of amplified genetic fragments of CRYAA, CRYAB, CRYBB2, CRYGC and CRYGD genes were in accordance with those of normal subjects and GeneBank. No mutation loci was found in all of the patients of this family. Conclusion： CRYAA, CRYAB, CRYBB2, CRYGC and CRYGD genes is not the causing disease genes in this family.