Myelin oligodendrocyte glycoprotein polymorphisms and multiple sclerosis

被引：14

作者：

Gomez-Lira, M

Moretto, G

Bonamini, D

Benedetti, MD

Pignatti, PF

Rizzuto, N

Salviati, A

机构：

[1] Univ Verona, Dept Mother & Child, Sect Biol & Genet, I-37134 Verona, Italy

[2] Hosp Belluno, Div Neurol, Belluno, Italy

[3] Univ Verona, Dept Neurol Sci, I-37100 Verona, Italy

来源：

JOURNAL OF NEUROIMMUNOLOGY | 2002年 / 133卷 / 1-2期

关键词：

MOG gene; polymophisms; sclerosis multipla;

D O I：

10.1016/S0165-5728(02)00361-2

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

A detailed analysis of the coding sequences of myelin oligodendrocyte glycoprotei (MOG) gene was performed in multiple sclerosis (MS) patients and in control individuals and three new polymorphisins are described: T636C, nt 5 71 + 77C --> T (IVS 4), and nt 710 - 44A --> G (IVS 6). Screening studies demonstrated that T636C was present in three MS patients and in no control individual and that polymorphisms nt 571 + 77C T (IVS 4), and nt 710 - 44A G (IVS 6), were present with no significant frequency differences in MS patients and control individuals. No mutations were found after sequencing the coding sequences of the extracellular domain of MOG gene in 20 MS patients and 20 control individuals. Screening studies were also performed for known polymorphisms: G15A, Val142Leu, nt 571 + 68A --> G (IVS 4), and 571 + 92C --> (IVS 4). Polymorphism Val 142 Leu, which is linked to nt 571 + 68A --> G (IVS 4), resulted under-represented in MS patients. (C) 2002 Elsevier Science B.V. All rights reserved.

引用

页码：241 / 243

页数：3