The aim of this study was to conduct clinical, genetic, and molecular analysis of Chinese patients with granular corneal dystrophy type I (CDGG1). Two large unrelated Chinese families with CDGG1 were clinically and genetically evaluated. Molecular genetic analysis was performed on DNA extracted from peripheral blood. Exons 4, 11, 12, and 14 of the human transforming growth factor beta-induced gene (TGFBI, formerly designated BIGH3) were amplified by PCR, scanned for mutations using the single-strand conformation polymorphism method, and the mutations identified by nucleotide sequencing. One family segregated the p.Ala546 > Asp mutation, and the other family had a p.Arg555 > Trp mutation. These missense mutations were not found in 53 unrelated, healthy individuals analyzed as controls. Clinical and genetic evaluations revealed the variable severity, symmetry, and age of onset in visual impairment in these families for different mutations. Penetrance of visual impairment in these families was 100% and 75%, respectively. This study confirms that the p.Arg555 > Trp mutation is a frequent cause of CDGG1, and that the p.Ala546 > Asp mutation is also associated with this disease.

译文

:本研究的目的是对中国I型角膜颗粒性营养不良患者(CDGG1)进行临床,遗传和分子分析。临床和遗传学评估了两个与CDGG1无关的中国大家庭。对从外周血中提取的DNA进行了分子遗传分析。通过PCR扩增人类转化生长因子β诱导基因(TGFBI,以前称为BIGH3)的外显子4、11、12和14,使用单链构象多态性方法扫描突变,并通过核苷酸测序鉴定突变。一个家庭隔离了p.Ala546> Asp突变,另一家庭隔离了p.Arg555> Trp突变。在被分析为对照的53个不相关,健康的个体中未发现这些错义突变。临床和遗传学评估显示,这些家族中因不同突变而导致的视力障碍的严重程度,对称性和发病年龄各不相同。这些家庭的视觉障碍渗透率分别为100%和75%。这项研究证实p.Arg555> Trp突变是CDGG1的常见原因,并且p.Ala546> Asp突变也与此疾病有关。

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