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

Fanggeng Zou, Yucheng Peng, Xiaoyan Wang, Aihua Sun, Wanqing Liu, Shaochun Bai, Hui Zhu, Bo Gao, Guoyin Feng, Lin He

Research output: Contribution to journalArticle

20 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)155-158
Number of pages4
JournalJournal of Human Genetics
Volume48
Issue number3
DOIs
StatePublished - 2003

Keywords

  • Congenital preauricular fistula
  • Gene mapping
  • Genotyping
  • Haplotyping
  • Linkage analysis
  • Mutation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Zou, F., Peng, Y., Wang, X., Sun, A., Liu, W., Bai, S., Zhu, H., Gao, B., Feng, G., & He, L. (2003). A locus for congenital preauricular fistula maps to chromosome 8q11.1-q13.3. Journal of Human Genetics, 48(3), 155-158. https://doi.org/10.1007/s100380300024