针对线粒体单倍群BM、J、K和M与多发性硬化症关联的人群筛查：波斯患者中单倍群J与多发性硬化症之间的相互关系。
Population screening for association of mitochondrial haplogroups BM, J, K and M with multiple sclerosis: interrelation between haplogroup J and MS in Persian patients.
作者信息
Houshmand M, Sanati M H, Babrzadeh F, Ardalan A, Teimori M, Vakilian M, Akuchekian M, Farhud D, Lotfi J
机构信息
Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran.
出版信息
Mult Scler. 2005 Dec;11(6):728-30. doi: 10.1191/1352458505ms1228sr.
BACKGROUND
Multiple sclerosis (MS) is an immunological inflammatory disease of the central nervous system (CNS) which is chronically observed in young adults. On the basis of earlier studies, potential relatedness between MS and mitochondrial DNA (mtDNA) mutations was postulated.
MATERIALS AND METHODS
246 individuals were screened using the PCR-RFLP method, including 70 MS patients examined for mitochondrial haplogroups BM, J, K and M and 176, 149 and 70 normal controls examined for haplogroups BM and M, J and K, respectively.
RESULTS AND DISCUSSION
Our analysis revealed a relatively high proportion of haplogroup BM in MS patients (approximately 26%) compared to normal controls ( approximately 13%). In addition, a slightly significant increase of MS patients of haplogroup J (20% in MS patients versus 9.39% in normal controls at P =0.049), while haplogroups M and K did not show contribution to MS contingency (2.85 and 2.27%, respectively at P = 1.000 in haplogroup M and 12.85 and 7.14% respectively at P =0.399 in haplogroup K).
背景
多发性硬化症（MS）是一种中枢神经系统（CNS）的免疫炎性疾病，常见于年轻成年人。基于早期研究，推测MS与线粒体DNA（mtDNA）突变之间可能存在关联。
材料与方法
采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对246名个体进行筛查，其中包括70名检测线粒体单倍群BM、J、K和M的MS患者，以及分别检测单倍群BM和M、J和K的176名、149名和70名正常对照。
结果与讨论
我们的分析显示，与正常对照（约13%）相比，MS患者中单倍群BM的比例相对较高（约26%）。此外，单倍群J的MS患者略有显著增加（MS患者中为20%，正常对照中为9.39%，P = 0.049），而单倍群M和K对MS的发生没有影响（单倍群M中分别为2.85%和2.27%，P = 1.000；单倍群K中分别为12.85%和7.14%，P = 0.399）。
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