目的：遗传性板层白内障家系致病基因的定位及突变筛查。
Objective: We tried to identify the genetic defect causing Hereditary lamellar Cataract.
摘要 ： 目的 对4例汉族马凡综合征（MFS）患者的原纤蛋白-1（FBN1）基因进行突变筛查，探讨MFS与FBN1基因突变的关系。
Abstract : Objective To detect FBN1 mutation by screening FBN1 gene from 4 patients with Marfan syndrome(MFS)to investigate the correlation between the gene mutation and the MFS.
抽提外周血基因组dna，对DAX1基因2个外显子(外显子1和2)的PCR扩增产物进行测序分析；无突变者行SF 1基因(外显子2 ~ 7)突变筛查。
Genome DNA was extracted from peripheral blood, exon 1 and exon 2 of DAX1 gene were amplified by PCR for sequencing, and mutation screening of SF1 gene (exon 2-7) was conducted.
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