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目的 对一个常染色体显性遗传的睑裂狭小、倒转型内眦赘皮和上睑下垂综合征(blepharophimosis epicanthus inversus and ptosis,BPES)家系的致病基因进行定位研究。方法 对染色体3q区域 4个微卫星位点 D3S30 45、D3S176 4、D3S30 5 3和 D3S2 436进行连锁分析。结果 未见患者在这 4个位点有缺失 ,各多态性位点 L od最大值 D3S30 45为 0 .77(θ=0 .0 0 ) ;D3S176 4为 3.6 1(θ=0 .0 0 ) ;D3S30 5 3为 0 .11(θ=0 .3) ;D3S2 436为 - 0 .0 3(θ=0 .4)。结论 在该家系中 ,BPES 与 3q2 2 - q2 4区域的D3S176 4位点紧密连锁
OBJECTIVE: To characterize a pedigree with blepharophimosis epicanthus inversus and ptosis (BPES) with autosomal dominant blepharophimosis, inverted epicanthosis and BPES. Methods Four microsatellite loci, D3S30 45, D3S176 4, D3S30 5 3 and D3S2 436, were analyzed by linkage analysis. The results showed that there was no deletion in these four loci. The maximum values of Lod locus at each polymorphic locus D3S30 45 were 0.77 (θ = 0 .0 0) and D3S176 4 was 3.6 1 (θ = 0. 0 0 ); D3S30 5 3 is 0.11 (θ = 0 .3); and D3S2 436 is -0.0 (θ = 0 .4). Conclusions In this pedigree, BPES is closely linked to the D3S176 4 locus in the 3q2 2 - q2 4 region