[Gene mapping on Blepharophimosis Epicanthus Inversus and Ptosis syndrome type I in Chinese family]
1Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100005 P.R. China. s_huang@btamail.net.cn
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 (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.
Conclusion:
The gene responsible for BPES in the Chinese family was tightly linked to D3S1764.
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