Genome-Wide Search for Strabismus Susceptibility Loci

Hirotake Fujiwara, Toshihiko Matsuo, Masako Sato, Takashi Yamane, Mizue Kitada, Satoshi Hasebe, Hiroshi Ohtsuki

Research output: Contribution to journalArticlepeer-review

24 Citations (Scopus)


The purpose of this study was to search for chromosomal susceptibility loci for comitant strabismus. Genomic DNA was isolated from 10 mL blood taken from each member of 30 nuclear families in which 2 or more siblings are affected by either esotropia or exotropia. A genome-wide search was performed with amplification by polymerase chain reaction of 400 markers in microsatellite regions with ∼10 cM resolution. For each locus, non-parametric affected sib-pair analysis and non-parametric linkage analysis for multiple pedigrees (Genehunter software, http://linkage. were used to calculate multipoint lod scores and non-parametric linkage (NPL) scores, respectively. In sib-pair analysis, lod scores showed basically flat lines with several peaks of 0.25 on all chromosomes. In non-parametric linkage analysis for multiple pedigrees, NPL scores showed one peak as high as 1.34 on chromosomes 1, 2, 4, 7, 10, 15, and 16, while 2 such peaks were found on chromosomes 3, 9, 11, 12, 18, and 20. Non-parametric linkage analysis for multiple pedigrees of 30 families with comitant strabismus suggested a number of chromosomal susceptibility loci. Our ongoing study involving a larger number of families will refine the accuracy of statistical analysis to pinpoint susceptibility loci for comitant strabismus.

Original languageEnglish
Pages (from-to)109-116
Number of pages8
JournalActa medica Okayama
Issue number3
Publication statusPublished - Jun 2003


  • Chromosomal susceptibility locus
  • Esotropia
  • Exotropia
  • Genome-wide search
  • Strabismus

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


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