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通过对18号染色体进行高分辨率微卫星分析,在日本人群中未发现与高度近视及MYP2基因座存在关联。

Lack of association with high myopia and the MYP2 locus in the Japanese population by high resolution microsatellite analysis on chromosome 18.

作者信息

Yamane Takahiro, Mok Jeewon, Oka Akira, Okada Eiichi, Nishizaki Ritsuko, Meguro Akira, Yonemoto Junichi, Kulski Jerzy K, Ohno Shigeaki, Inoko Hidetoshi, Mizuki Nobuhisa

机构信息

Department of Ophthalmology, Yokohama City University School of Medicine, Yokohama, Kanagawa, Japan.

出版信息

Clin Ophthalmol. 2007 Sep;1(3):311-6.

Abstract

MYP2 was reported for a candidate locus associated with high grade myopia by linkage analysis, but no candidate gene has been detected. We report an association study in the Japanese population using 750 microsatellite markers on chromosome 18 that include MYP2 locus. 450 Japanese subjects with high myopia whose refractive error was greater than or equal to -9.25D in at least one eye and equal number of normal control subjects were recruited in this study. Three steps screening on the pooled DNA of patients and the pooled DNA of controls were performed in this study. A total of 722 microsatellite markers could be analyzed, and we obtained 4 positive markers. Then to avoid experimental errors and artifacts, we confirmed true allele frequency by individual genotyping using initial set of 450 patients and controls. Only marker D18S0301i showed statistically significance, and no marker showed statistically significance on the MYP2 locus. Near the marker D18S0301i, GALNT1 gene was located, but its relation to high myopia has remained to be identified.

摘要

通过连锁分析,MYP2被报道为与高度近视相关的一个候选基因座,但尚未检测到候选基因。我们在日本人群中进行了一项关联研究,使用了位于18号染色体上的750个微卫星标记,其中包括MYP2基因座。本研究招募了450名高度近视的日本受试者,其至少一只眼睛的屈光不正度数大于或等于-9.25D,以及数量相等的正常对照受试者。本研究对患者的混合DNA和对照的混合DNA进行了三步筛选。总共可以分析722个微卫星标记,我们获得了4个阳性标记。然后,为了避免实验误差和假象,我们使用最初的450名患者和对照通过个体基因分型来确认真实的等位基因频率。只有标记D18S0301i显示出统计学意义,而在MYP2基因座上没有标记显示出统计学意义。在标记D18S0301i附近,定位了GALNT1基因,但其与高度近视的关系仍有待确定。

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