HGM2002 Poster Abstracts: 8. Disease Mechanisms
POSTER NO: 484
A locus for Congenital Preauricular Fistulae maps to Chromosome 8q11.1-q13.3
3Fanggeng Zou, 2Yucheng Peng, 3Xiaoyan Wang, 2Aihua Sun, 3Wanqing Liu, 3Shaochun Bai, 3Hui Zhu, 1Guoyin Feng, 1Bo Gao, 1Lin He
Congenital Preauricular Fistulae (CPF; MIM 128700) is a common auricular abnormality which occurs in the upper anterior end of the helix, just a kind of narrow, winding fistulae, sometimes with branches. The incidence of Congenital Preauricular Fistulae (CPF) is >1.1% in both Chinese and Caucasians and even higher in Blacks. The gene underlying CPF has not been mapped up to now. A family composed of 7 affected and 11 normal subjects was recruited in this study. Two-point linkage analysis for the pedigree mapped the locus for CPF in this family to chromosome 8q11.1-q13.3. LOD score 2.40 shown by markers D8S285 and D8S1113 at recombination fraction theta=0.00.(p=0.000889) The results from another three markers (D8S1110, D8S260,D8S1136) in this region further supported the linkage (p<0.001). The haplotype analysis confined the locus for this family within an interval of approx. 26.7 cM flanked by markers D8S532 and D8S279. The LOD score that is less than 3 may be due to the family size limitation. We are currently trying to narrow down the candidate region by collecting and analyzing additional pedigrees and scan the genes involved in the defined region to find the candidate mutations.
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