期刊
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
卷 374, 期 4, 页码 714-719出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.bbrc.2008.07.094
关键词
essential hypertension; neurotransmitter transporter; VNTR; minisatellite polymorphisms; SLC6A19
资金
- 21 C Frontier Functional Human Genome Project [FG06-11-06]
- Ministry of Science AMP
- Technology, Korea
- Ministry of Education, Science & Technology (MoST), Republic of Korea [C28099] Funding Source: Korea Institute of Science & Technology Information (KISTI), National Science & Technology Information Service (NTIS)
- National Research Foundation of Korea [과C6B2606, 2007-03944, 02-2006-00-003-00] Funding Source: Korea Institute of Science & Technology Information (KISTI), National Science & Technology Information Service (NTIS)
The SLC6A19 is a human homolog of B(0)AT1 that encodes a neutral amino acid transporter. We examined the distribution of VNTR (variable number of tandem repeats; minisatellites) and conducted polymorphic analysis of SCL6A19 isolated from the genomic DNA of controls and multi-generational families. The SLC6A19 was found to contain seven blocks of minisatellites, 3 of which (SLC6A19-MS1, -MS4, and -MS7) showed polymorphism and were found to be transmitted through meiosis following Mendelian inheritance in seven families. These minisatellite polymorphisms may be useful markers for paternity mapping and DNA fingerprinting. Furthermore, we conducted a case-control study in which genomic DNA from 400 controls and 205 cases with essential hypertension was compared. A statistically significant association was identified between rare SLC6A19-MS7 alleles and the occurrence of hypertension (odds ratio, 7.87; 95% confidence interval, 0.88-70.66; and p = 0.028). These findings suggest that the rare SLC6A19-MS7 allele may be a risk factor for hypertension. Crown Copyright (c) 2008 Published by Elsevier Inc. All rights reserved.
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