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全基因组斜视易感基因座搜索。

Genome-wide search for strabismus susceptibility loci.

作者信息

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

机构信息

Department of Ophthalmology, Okayama University Graduate School of Medicine and Dentistry, Okayama 700-8558, Japan.

出版信息

Acta Med Okayama. 2003 Jun;57(3):109-16. doi: 10.18926/AMO/32833.

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.

摘要

本研究的目的是寻找共同性斜视的染色体易感基因座。从30个核心家庭的每个成员采集的10mL血液中分离基因组DNA,这些家庭中有2个或更多兄弟姐妹患有内斜视或外斜视。使用聚合酶链反应对微卫星区域中分辨率约为10cM的400个标记进行扩增,进行全基因组搜索。对于每个基因座,分别使用非参数受累同胞对分析和多个家系的非参数连锁分析(Genehunter软件,http://linkage.rockefeller.edu/soft/)来计算多点对数似然比分数和非参数连锁(NPL)分数。在同胞对分析中,对数似然比分数在所有染色体上基本呈平线,有几个峰值为0.25。在多个家系的非参数连锁分析中,NPL分数在1、2、4、7、10、15和16号染色体上显示出一个高达1.34的峰值,而在3、9、11、12、18和20号染色体上发现了2个这样的峰值。对30个共同性斜视家系进行多个家系的非参数连锁分析提示了一些染色体易感基因座。我们正在进行的涉及更多家庭的研究将提高统计分析的准确性,以确定共同性斜视的易感基因座。

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