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


CONCLUSIONS
The gene responsible for BPES in the Chinese family was tightly linked to D3S1764.
Zhang
W
W
Department 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
Pang
H
H
Shi
H
H
Huang
S
S
D000015:Abnormalities, Multiple / Q000235:genetics*; D016569:Blepharophimosis / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics*; D002874:Chromosome Mapping; D008040:Genetic Linkage; D006801:Humans; D009666:Nose / Q000002:abnormalities*; D011110:Polymorphism, Genetic