Genetic Analysis Of ABCA1 Gene Of Primary Glaucoma In Jordanian Arab Population

IF 2.6 Q2 GENETICS & HEREDITY
R. Alkhatib, Nada Abudhaim, L. Al-Eitan, N. Abdo, A. Alqudah, Hatem A. Aman
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引用次数: 5

Abstract

Background Glaucoma is a neurodegenerative disease that leads to progressive loss of retinal ganglion cells, causing irreversible visual field defects. At the present time, glaucoma is clinically defined but the exact etiology is unknown. The aim of this study is to genotype rs2472493 and rs2487032 SNIPs within ABCA1 gene in 52 Jordanian Arab patients with primary glaucoma and 96 control subjects, and also to investigate the genetic association of these SNPs with primary glaucoma. Methods DNA was extracted from both patients and controls according to a well-established procedure. Then, DNA was amplified by PCR using specific primers for this gene. Analysis of polymorphisms was carried out by using DNA sequencing genotyping method. Results The results showed that the two SNPs (rs2472493 and rs2487032) located upstream of ABCA1 gene have no significant associations with primary glaucoma disorder (P > 0.05). Conclusion This study is the first of its kind to reveal no genetic association between ABCA1 gene and primary glaucoma disorder in Jordanian population of Arab descent.
约旦阿拉伯人群原发性青光眼ABCA1基因的遗传分析
青光眼是一种神经退行性疾病,导致视网膜神经节细胞进行性丧失,造成不可逆的视野缺损。目前临床上对青光眼有明确的定义,但其确切的病因尚不清楚。本研究的目的是对52例约旦阿拉伯原发性青光眼患者和96例对照者的ABCA1基因内rs2472493和rs2487032 snp进行基因分型,并探讨这些snp与原发性青光眼的遗传关系。方法按既定程序提取患者和对照组的DNA。然后,利用该基因的特异性引物进行PCR扩增。采用DNA测序基因分型方法进行多态性分析。结果位于ABCA1基因上游的两个snp (rs2472493和rs2487032)与原发性青光眼疾病无显著相关性(P < 0.05)。结论本研究首次揭示ABCA1基因与约旦阿拉伯裔人群原发性青光眼疾病之间无遗传关联。
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来源期刊
Application of Clinical Genetics
Application of Clinical Genetics Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
5.40
自引率
0.00%
发文量
20
审稿时长
16 weeks
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