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54对双胞胎中的多发性硬化症: concordance率与合子性无关。法国多发性硬化症研究小组。 (注:“concordance”一般译为“一致性”“符合率”等,这里根据语境暂保留英文未译出更准确的中文表述)

Multiple sclerosis in 54 twinships: concordance rate is independent of zygosity. French Research Group on Multiple Sclerosis.

出版信息

Ann Neurol. 1992 Dec;32(6):724-7. doi: 10.1002/ana.410320604.

Abstract

In a large population-based multiple sclerosis (MS) sample (n = 7,951), 116 twins were identified (1.4%), of which it was possible to contact 97. In 27 pairs, the twin of the patient with MS was dead. Among the 70 remaining pairs, 16 were excluded because either the index patient or their twin did not accept protocol requirements. The final sample included 54 pairs. Twin zygosity was determined by DNA fingerprint analysis. We found 17 monozygotic pairs and 37 dizygotic pairs. One of the 17 monozygotic pairs (5.9%) and 1 of the 37 dizygotic pairs (2.7%) were concordant for MS. In 42 of the clinically unaffected twins, magnetic resonance imaging (MRI) of the brain was performed, and 9 scans were classified as indicative of MS. Three of these 42 patients had abnormal visual-evoked potentials, but all 3 had normal MRI scans. The overall proportion of pairs in which the co-twin had some form of clinical, radiological, or electrophysiological abnormality was approximately 30%; this proportion was independent of zygosity.

摘要

在一个基于大规模人群的多发性硬化症(MS)样本(n = 7,951)中,识别出116对双胞胎(占1.4%),其中97对可以取得联系。在27对中,MS患者的双胞胎已去世。在其余70对中,有16对被排除,原因是索引患者或其双胞胎不接受方案要求。最终样本包括54对。通过DNA指纹分析确定双胞胎的合子性。我们发现17对同卵双胞胎和37对异卵双胞胎。17对同卵双胞胎中有1对(5.9%)以及37对异卵双胞胎中有1对(2.7%)患MS一致。在42名临床未受影响的双胞胎中,对其进行了脑部磁共振成像(MRI)检查,其中9次扫描结果被归类为提示MS。这42名患者中有3名视觉诱发电位异常,但所有3人的MRI扫描结果均正常。双胞胎中有某种形式临床、放射学或电生理异常的配对总体比例约为30%;该比例与合子性无关。

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