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
¹Bio-X Life Science Research Center, Shanghai Jiao Tong University, Shanghai, ²Shanghai Chang Zheng Hospital, Shanghai Chang Zheng Hospital, R.P. China, ³Shanghai Institutes Research Center of Life Sciences, Chinese Academy of Sciences, 320 Yue Yang Road, Shanghai 200031, R.P. China

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.