Minisatellite polymorphisms of the SLC6A19: Susceptibility in hypertension
Minisatellite polymorphisms of the SLC6A19: Susceptibility in hypertension
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DOI：
10.1016/j.bbrc.2008.07.094
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发表时间：
2008-10-03
影响因子：
3.1
通讯作者：
Leem, Sun-Hee
中科院分区：
文献类型：
--
作者：
Seol, So-Young;Lee, Sang-Yeop;Leem, Sun-Hee
SLC 6A 19是编码中性氨基酸转运蛋白的B（0）AT 1的人类同源物。我们研究了VNTR（可变数目的串联重复序列;小卫星）的分布，并对从对照和多代家庭的基因组DNA中分离的SCL 6A 19进行了多态性分析。SLC 6A 19含有7个小卫星，其中3个（SLC 6A 19-MS 1、-MS 4和-MS 7）表现出多态性，并在7个家系中通过孟德尔遗传的减数分裂传递。这些小卫星多态性可能是一个有用的标记，亲子关系定位和DNA指纹图谱。此外，我们进行了一项病例对照研究，其中400名对照和205例原发性高血压患者的基因组DNA进行了比较。在罕见的SLC 6A 19-MS 7等位基因与高血压的发生之间确定了统计学显著相关性（比值比，7.87; 95%置信区间，0.88-70.66;和p = 0.028）。这些结果表明，罕见的SLC 6A 19-MS 7等位基因可能是高血压的危险因素。皇冠版权所有（c）2008由爱思唯尔公司出版。All rights reserved.
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.