Galactokinase基因突变和老年性白内障。缺乏协会一位意大利人口。
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Maraini G, Hejtmancik摩根富林明,Shiels麦凯DS, Aldigeri R,焦XD,威廉姆斯SL Sperduto RD,里德G
Galactokinase基因突变和老年性白内障。缺乏协会一位意大利人口。
摩尔粘度2003年8月26日,9:397 - 400。
- PubMed ID
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12942049 (在PubMed]
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目的:探讨galactokinase基因序列之间可能的关联变化(GALK1)和欧洲人口年龄相关性白内障。方法:人没有与临床上重要的老年性白内障晶状体混浊和个人选择的参与协作的意大利裔美国人的营养补充剂和年龄相关性白内障的临床试验或从就读的大学的眼科白内障手术的帕尔马。混浊的类型和严重性评估通过裂隙灯和retro-illumination镜头的照片。突变GALK1被确定个体外显子和侧翼序列的PCR扩增和测序使用荧光终结者技术在自动DNA测序器的ABI 377棱镜或3100。结果:DNA样本得到与清晰的镜头和从185年115人患有白内障(与任何皮质与任何核106,88,和25后子荚膜白内障)。157 185例白内障(85%)患者的年龄,年龄范围控制在±1年。单核苷酸多态性导致galactokinase蛋白质氨基酸的变化被发现外显子4;I184M, 1/115控制与0/185洪流的个体,p = 0.38,外显子6;G274D, 0/115控制与1/185洪流的个体,p > 0.99,和外显子7;V338A, 0/115控制与1/185洪流的个体,p > 0.99。 Thus, there were no significant differences in the distribution of sequence alterations resulting in amino acid changes between control and cataractous individuals. Eighty samples showed a C to T transition 43 bases into intron 7 (46 cataracts and 34 controls). Testing the distribution of the intron 7 findings showed Hardy-Weinberg equilibrium for both cases (p=0.73) and controls (p=0.51). There was no difference in C/T distribution between cases and controls (p=0.27). CONCLUSIONS: In this northern Italian population age-related cataract does not appear to be associated with GALK1 alleles. Since this is due to a lack of sequence changes in both affected and control individuals, this study cannot rule out the possibility of an association in other populations.