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Gene mapping on Blepharophimosis Epicanthus Inversus and Ptosis syndrome type I in Chinese family

, : Gene mapping on Blepharophimosis Epicanthus Inversus and Ptosis syndrome type I in Chinese family. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 18(1): 8-10

To map the gene responsible for Blepharophimosis Epicanthus Inversus and Ptosis syndrome(BPES) type I in a Chinese family. Polymorphisms of 4 satellite markers of 3q were analyzed and linkage analysis was performed using linkage software (MLINK, Version 5.2). No deletion was detected for the four markers. The maximum lod scores were: 0.77 (theta = 0.00) at D3S3045; 3.61 (theta = 0.00) at D3S1764; 0.11 (theta = 0.3) at D3S3053 and -0.03 (theta = 0.4) at D3S2436. The gene responsible for BPES in the Chinese family was tightly linked to D3S1764.


PMID: 11172632

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