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 journalArticle

19 Citations (Scopus)

Abstract

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. rockefeller.edu/soft/) 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
Volume57
Issue number3
Publication statusPublished - Jun 2003

Fingerprint

Strabismus
Pedigree
Chromosomes
Lod Score
Genes
Genome
Exotropia
Esotropia
Chromosomes, Human, Pair 9
Chromosomes, Human, Pair 3
Chromosomes, Human, Pair 2
Chromosomes, Human, Pair 1
Polymerase chain reaction
Nuclear Family
Microsatellite Repeats
Amplification
Siblings
Statistical methods
Blood
Software

Keywords

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

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Fujiwara, H., Matsuo, T., Sato, M., Yamane, T., Kitada, M., Hasebe, S., & Ohtsuki, H. (2003). Genome-Wide Search for Strabismus Susceptibility Loci. Acta Medica Okayama, 57(3), 109-116.

Genome-Wide Search for Strabismus Susceptibility Loci. / Fujiwara, Hirotake; Matsuo, Toshihiko; Sato, Masako; Yamane, Takashi; Kitada, Mizue; Hasebe, Satoshi; Ohtsuki, Hiroshi.

In: Acta Medica Okayama, Vol. 57, No. 3, 06.2003, p. 109-116.

Research output: Contribution to journalArticle

Fujiwara, H, Matsuo, T, Sato, M, Yamane, T, Kitada, M, Hasebe, S & Ohtsuki, H 2003, 'Genome-Wide Search for Strabismus Susceptibility Loci', Acta Medica Okayama, vol. 57, no. 3, pp. 109-116.
Fujiwara H, Matsuo T, Sato M, Yamane T, Kitada M, Hasebe S et al. Genome-Wide Search for Strabismus Susceptibility Loci. Acta Medica Okayama. 2003 Jun;57(3):109-116.
Fujiwara, Hirotake ; Matsuo, Toshihiko ; Sato, Masako ; Yamane, Takashi ; Kitada, Mizue ; Hasebe, Satoshi ; Ohtsuki, Hiroshi. / Genome-Wide Search for Strabismus Susceptibility Loci. In: Acta Medica Okayama. 2003 ; Vol. 57, No. 3. pp. 109-116.
@article{c5b5173d2f5f40099a538e5a9f568d46,
title = "Genome-Wide Search for Strabismus Susceptibility Loci",
abstract = "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. rockefeller.edu/soft/) 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.",
keywords = "Chromosomal susceptibility locus, Esotropia, Exotropia, Genome-wide search, Strabismus",
author = "Hirotake Fujiwara and Toshihiko Matsuo and Masako Sato and Takashi Yamane and Mizue Kitada and Satoshi Hasebe and Hiroshi Ohtsuki",
year = "2003",
month = "6",
language = "English",
volume = "57",
pages = "109--116",
journal = "Acta Medica Okayama",
issn = "0386-300X",
publisher = "Okayama University",
number = "3",

}

TY - JOUR

T1 - Genome-Wide Search for Strabismus Susceptibility Loci

AU - Fujiwara, Hirotake

AU - Matsuo, Toshihiko

AU - Sato, Masako

AU - Yamane, Takashi

AU - Kitada, Mizue

AU - Hasebe, Satoshi

AU - Ohtsuki, Hiroshi

PY - 2003/6

Y1 - 2003/6

N2 - 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. rockefeller.edu/soft/) 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.

AB - 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. rockefeller.edu/soft/) 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.

KW - Chromosomal susceptibility locus

KW - Esotropia

KW - Exotropia

KW - Genome-wide search

KW - Strabismus

UR - http://www.scopus.com/inward/record.url?scp=0242405622&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0242405622&partnerID=8YFLogxK

M3 - Article

C2 - 12908008

AN - SCOPUS:0242405622

VL - 57

SP - 109

EP - 116

JO - Acta Medica Okayama

JF - Acta Medica Okayama

SN - 0386-300X

IS - 3

ER -