A locus for congenital preauricular fistula maps to chromosome 8q11.1-q13.3

被引：15
|
作者：
Zou, FG
Peng, YC
Wang, XY
Sun, AH
Liu, WQ
Bai, SC
Zhu, H
Gao, B
Feng, GY
He, L
机构：
[1] Shanghai Jiao Tong Univ, Bio X Life Sci Res Ctr, Shanghai 200030, Peoples R China
[2] Chinese Acad Sci, Shanghai Res Ctr Life Sci, Shanghai, Peoples R China
[3] Shanghai Chang Zheng Hosp, Shanghai, Peoples R China
来源：
JOURNAL OF HUMAN GENETICS | 2003年 / 48卷 / 03期
关键词：
congenital preauricular fistula; linkage analysis; gene mapping; genotyping; haplotyping; mutation;
D O I：
10.1007/s100380300024
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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 (0) 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 26.7cM, flanked by markers D8S532 and D8S279. A LOD score of <3 is likely due to the limitation of family size.
引用
收藏
页码：155 / 158
页数：4
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