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中山眼科中心张清炯、毛文书等7人应用分于杂交技术对43例先天性红绿色觉异常患者、3个色觉异常家系及11名正常人的色觉基因进行了分析,并应用PCR技术检测异常色觉基因。发现病例男性红色觉异常者全部有红色觉基因的异常,大部分绿色觉基因异常,证实了联合应用多个探针可提高异常色觉基因检出率,提出先天性色觉异常的主要原因是基因的缺失和杂种基因的形成所致。研究采用的方法先进,难度大,分析病例多,涉及眼科学、心理物理、医学遗传和分子生物学等学科。全部工作国内首次报道,部分工作国内外首次报道,揭
Zhongshan Center for Ophthalmology Zhang Qingjiong, Mao Wenshu and other seven applications sub-hybridization technology in 43 cases of congenital red-green anomalous patients, three chromosomal abnormalities pedigrees and 11 normal human chromosomal genes were analyzed and applied PCR detection of abnormal color vision gene. Found that cases of male red abnormalities were all abnormal red gene, most of the green gene abnormalities confirmed that the combination of multiple probes can increase the detection rate of abnormal color vision genes, the main reason for the proposed congenital chromosomal abnormalities is the gene Deletion and hybrid gene formation. Research methods used advanced, difficult, analysis of cases and more, involving ophthalmology, psychophysics, medical genetics and molecular biology and other disciplines. All work was first reported in China, some of the work was first reported at home and abroad, exposing