Linkage analysis in juvenile neuronal ceroid lipofuscinosis.
Linkage analysis in juvenile neuronal ceroid lipofuscinosis.
复制标题
幼年神经元蜡样质脂褐质沉着症的连锁分析。
DOI：
10.1002/ajmg.1320420424
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发表时间：
1992
期刊：
影响因子：
--
通讯作者：
Gusella,JF
中科院分区：
文献类型：
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作者：
Haines,JL;Yan,WL;Boustany,RM;Jewell,A;Julier,C;Breakefield,XO;Gusella,JF
神经性蜡样脂褐素沉积症(NCL，Batten病)是一种常染色体隐性遗传病，以进行性智力低下、皮质萎缩、癫痫发作和视网膜变性为特征。根据发病年龄和组织学特征，已划分出几种亚型；最常见的是幼年型(JNCL)。最近，通过对结合珠蛋白基因座的连锁研究和利用许多欧洲家庭的匿名DNA标记，JNCL基因被证明位于16号染色体上。我们现在已经检查了来自北美的8个JNCL家系，以寻找与16q21-23的标记连锁。结果3个家系倾向于16号染色体连锁，3个家系信息不明确，2个家系Lod评分为阴性。对同质性的检验具有提示性，但不能显著拒绝同质性的零假设。我们正在继续收集家庭，特别是那些有多个活体受影响的家庭，并正在确定该地区的其他调查。鉴于JNCL在16号染色体上的紧密定位，目前正在探索包括候选基因策略在内的分子策略。
Neuronal ceroid lipofuscinosis (NCL, Batten disease) is an autosomal recessive disease characterized by progressive mental retardation, cortical atrophy, seizures, and retinal degeneration. Several subtypes have been delineated on the basis of age‐at‐onset and histological characteristics; the most common is the juvenile (JNCL) form. Recently, the gene for JNCL was shown to reside on chromosome 16 through linkage studies to the haptoglobin locus and anonymous DNA markers using numerous European families. We have now examined 8 families from North America with JNCL for linkage to markers in 16q21–23. Results in 3 families tend to support linkage to chromosome 16; 3 families remained uninformative, and 2 families produced negative lod scores in this region. A test of homogeneity was suggestive, but could not significantly reject the null hypothesis of homogeneity. We are continuing to collect families, particularly those with multiple living affecteds, and are identifying other probes in this region. Given close localization on chromosome 16 for JNCL, molecular strategies, including candidate gene strategies, are being explored.