Gene mapping on Blepharophimosis Epicanthus Inversus and Ptosis syndrome type Ⅰ in a Chinese family
10.3760/j.issn:1003-9406.2001.01.003
- VernacularTitle: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
- Author:
Weimin ZHANG
1
;
Hui PANG
;
Huiping SHI
;
Shangzhi HUANG
Author Information
1. 中国医学科学院基础医学研究所
- From:
Chinese Journal of Medical Genetics
2001;18(1):8-10
- CountryChina
- Language:Chinese
-
Abstract:
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.
