Rose J, Gerken S, Lynch S, Pisani P, Varvil T, Otterud B, Leppert M
Neurovirology Research Laboratory, VAMC, Salt Lake City, UT 84148.
Lancet. 1993 May 8;341(8854):1179-81. doi: 10.1016/0140-6736(93)91003-5.
The myelin basic protein (MBP) gene is a candidate locus for disease susceptibility in familial multiple sclerosis. Amplification of a polymorphic tetranucleotide repeat region immediately 5' to MBP exon 1 demonstrated the presence of eight different alleles among members of 14 multiplex multiple sclerosis families (36 affected individuals). Linkage analysis was performed with autosomal dominant and autosomal recessive models, normal individuals with abnormal magnetic resonance scans being scored as either unknown or affected. Cumulative LOD scores were negative for both models of inheritance. The results do not demonstrate linkage between the MBP gene region and multiple sclerosis.
髓鞘碱性蛋白(MBP)基因是家族性多发性硬化症疾病易感性的候选基因座。对MBP外显子1 5'端紧邻的一个多态性四核苷酸重复区域进行扩增,结果显示在14个多重多发性硬化症家系(36名受累个体)的成员中存在8种不同的等位基因。采用常染色体显性和常染色体隐性模型进行连锁分析,将磁共振扫描异常的正常个体评定为未知或受累个体。两种遗传模型的累积对数优势分数均为阴性。结果未显示MBP基因区域与多发性硬化症之间存在连锁关系。