睑裂狭小、倒转型内眦赘皮和上睑下垂综合征Ⅰ型相关基因的定位

摘要

Objective　To map the gene responsible for Blepharophimosis Epicanthus Inversus and Ptosis syndrome(BPES) type Ⅰ in a Chinese family.Methods　Polymorphisms of 4 satellite markers of 3q were analyzed and linkage analysis was performed using linkage software (MLINK, Version 5.2).Results No deletion was detected for the four markers. The maximum lod scores were:0.77 (θ＝0.00) at D3S3045;3.61(θ＝0.00) at D3S1764; 0.11 (θ＝0.3) at D3S3053 and -0.03 (θ＝0.4) at D3S2436.Conclusion　The gene responsible for BPES in the Chinese family was tightly linked to D3S1764.%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D3S3045、D3S1764、D3S3053和D3S2436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Lod最大值D3S3045为0.77(θ＝0.00)；D3S1764为3.61(θ＝0.00)；D3S3053为0.11(θ＝0.3)；D3S2436为-0.03(θ＝0.4)。结论　在该家系中，BPES Ⅰ与3q22-q24区域的D3S1764位点紧密连锁。