このエントリーをはてなブックマークに追加
ID 32833
JaLCDOI
FullText URL
Author
Fujiwara, Hirotake
Sato, Masako
Yamane, Takashi
Kitada, Mizue
Abstract

The purpose of this study was to search for chromosomal susceptibility loci for comitant strabismus. Genomic DNA was isolated from 10mL 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 approximately 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.</P>

Keywords
chromosomal susceptibility locus
esotropia
exotropia
genome-wide search
strabismus
Amo Type
Article
Publication Title
Acta Medica Okayama
Published Date
2003-06
Volume
volume57
Issue
issue3
Publisher
Okayama University Medical School
Start Page
109
End Page
116
ISSN
0386-300X
NCID
AA00508441
Content Type
Journal Article
language
English
File Version
publisher
Refereed
True
PubMed ID
Web of Science KeyUT