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}
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.