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ID 32833
JaLCDOI
フルテキストURL
著者
Fujiwara, Hirotake Okayama University
Matsuo, Toshihiko Okayama University ORCID Kaken ID
Sato, Masako Okayama University
Yamane, Takashi Okayama University
Kitada, Mizue Okayama University
Hasebe, Satoshi Okayama University
Ohtsuki, Hiroshi Okayama University
抄録

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>

キーワード
chromosomal susceptibility locus
esotropia
exotropia
genome-wide search
strabismus
Amo Type
Article
発行日
2003-06
出版物タイトル
Acta Medica Okayama
57巻
3号
出版者
Okayama University Medical School
開始ページ
109
終了ページ
116
ISSN
0386-300X
NCID
AA00508441
資料タイプ
学術雑誌論文
言語
English
論文のバージョン
publisher
査読
有り
PubMed ID
Web of Science KeyUT