约旦阿拉伯人群原发性青光眼ABCA1基因的遗传分析

IF 2.6 Q2 GENETICS & HEREDITY Application of Clinical Genetics Pub Date : 2019-10-04 DOI:10.2147/TACG.S213818
R. Alkhatib, Nada Abudhaim, L. Al-Eitan, N. Abdo, A. Alqudah, Hatem A. Aman
{"title":"约旦阿拉伯人群原发性青光眼ABCA1基因的遗传分析","authors":"R. Alkhatib, Nada Abudhaim, L. Al-Eitan, N. Abdo, A. Alqudah, Hatem A. Aman","doi":"10.2147/TACG.S213818","DOIUrl":null,"url":null,"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.","PeriodicalId":39131,"journal":{"name":"Application of Clinical Genetics","volume":"12 1","pages":"181 - 189"},"PeriodicalIF":2.6000,"publicationDate":"2019-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2147/TACG.S213818","citationCount":"5","resultStr":"{\"title\":\"Genetic Analysis Of ABCA1 Gene Of Primary Glaucoma In Jordanian Arab Population\",\"authors\":\"R. Alkhatib, Nada Abudhaim, L. Al-Eitan, N. Abdo, A. Alqudah, Hatem A. Aman\",\"doi\":\"10.2147/TACG.S213818\",\"DOIUrl\":null,\"url\":null,\"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.\",\"PeriodicalId\":39131,\"journal\":{\"name\":\"Application of Clinical Genetics\",\"volume\":\"12 1\",\"pages\":\"181 - 189\"},\"PeriodicalIF\":2.6000,\"publicationDate\":\"2019-10-04\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.2147/TACG.S213818\",\"citationCount\":\"5\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Application of Clinical Genetics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.2147/TACG.S213818\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Application of Clinical Genetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2147/TACG.S213818","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 5

摘要

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。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
Genetic Analysis Of ABCA1 Gene Of Primary Glaucoma In Jordanian Arab Population
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.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
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
期刊最新文献
Comparison of Genetic, Auditory Features, and Systemic Clinical Phenotype in 14 Families with Syndromic Hearing Loss. Association of RIPK1 and RIPK2 Gene Polymorphisms with Rheumatoid Arthritis in a Chinese Han Population. Consanguinity and Occurrence of Monogenic Diseases in a Single Tertiary Centre in Riyadh, Saudi Arabia: A 2 Years Cross-Sectional Study. The Ser434Phe Androgen Receptor Gene Mutation Does Not Affect Fertility but is Associated with Increased Prolactin. Class II Transactivator Gene (CIITA) Variants Associated with Bare Lymphocyte Syndrome II in a Female Sudanese Patient.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1