A locus for congenital preauricular fistula maps to chromosome 8q11.1-q13.3.
The incidence of congenital preauricular fistula (CPF) is >1.1% in both Chinese and Caucasians, but it is even higher in Blacks. We mapped the locus for CPF to chromosome 8q11.1-q13.3 by linkage analysis of a family composed of 7 affected and 11 nonaffected members. The two-point LOD score was 2.40, shown by markers D8S285 and D8S1113 at a recombination fraction (theta) of 0.00. Results from three other markers (D8S1110, D8S260, and D8S1136) in the same region further support the linkage. Haplotype analysis for this family confined the locus to within an interval of approximately 26.7 cM, flanked by markers D8S532 and D8S279. A LOD score of <3 is likely due to the limitation of family size.
Zou
Fanggeng
F
Shanghai Research Center of Life Sciences, Chinese Academy of Sciences, Shanghai, China.
Peng
Yucheng
Y
Wang
Xiaoyan
X
Sun
Aihua
A
Liu
Wanqing
W
Bai
Shaochum
S
Zhu
Hui
H
Gao
Bo
B
Feng
Guoyin
G
He
Lin
L
D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8; D004431:Ear, External / Q000002:abnormalities*; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008126:Lod Score; D008297:Male; D009687:Nuclear Proteins; D010375:Pedigree; D017027:Protein Tyrosine Phosphatases; D015534:Trans-Activators / Q000235:genetics
D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D015534:Trans-Activators; C104381:EYA1 protein, human; D017027:Protein Tyrosine Phosphatases