Application of chromosome 16 markers in the differential diagnosis of neuronal ceroid-lipofuscinosis.
Application of chromosome 16 markers in the differential diagnosis of neuronal ceroid-lipofuscinosis.
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16号染色体标记物在神经元蜡质脂褐质沉积症鉴别诊断中的应用
DOI：
10.1002/ajmg.1320570247
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发表时间：
1995
期刊：
影响因子：
--
通讯作者：
Breuning,MH
中科院分区：
文献类型：
--
作者：
Taschner,PE;deVos,N;Catsman-Berrevoets,CE;vanDuinen,SG;Lindhout,D;Breuning,MH
神经元蜡样质脂褐质沉积症（NCL）的准确诊断对于该疾病的正确预后和遗传咨询非常重要。到目前为止，还没有直接诊断NCL的试验。临床诊断是根据症状，神经生理学，神经放射学和特定的脂肪色素模式数据。最近的进展，在遗传学的NCL使我们能够使用多态性DNA标记连锁的CLN 1和CLN 3基因座作为一种工具，在鉴别诊断NCL。我们已经应用了遗传分析与多态性DNA标记侧翼的CLN 3基因在染色体16到两个血缘家庭中发生NCL。在第一个家庭，这是土耳其提取，两名患者患有长期形式的青少年NCL以前已被诊断为青少年NCL。来自该家族的单倍型表明患者和他们的健康同胞是单倍型相同的，这表明这种延长形式的青少年NCL与CLN 3基因座无关。在第二个家庭，这是摩洛哥血统，一名患者患有早期青少年变异的NCL（卡瓦纳湖）。在这个家族中，患者和其中一个健康的兄弟姐妹具有相同的单倍型，排除了早期青少年NCL与16p12.1 - 11.2上的CLN 3位点的连锁。因此，这些来自不同人群的病例表明，单倍型分析可以作为排除青少年NCL诊断的另一种方法。© 1995 Wiley利斯公司
Accurate diagnosis of neuronal ceroid lipofuscinosis (NCL) is important for a correct prognosis of the disease and for genetic counseling. Up to now, no direct diagnostic test has been available for NCL. The clinical diagnosis is made on the basis of symptoms, neurophysiological, neuroradiological, and specific lipopigment pattern data. Recent advances in the genetics of NCL have enabled us to use polymorphic DNA markers linked to the CLN1 and CLN3 loci as a tool in the differential diagnosis of NCL. We have applied genetic analysis with polymorphic DNA markers flanking the CLN3 gene on chromosome 16 to two consanguineous families in which NCL occurs. In the first family, which is of Turkish extraction, two patients suffering from a protracted form of juvenile NCL previously had been diagnosed with juvenile NCL. Haplotypes from this family indicate that the patients and their healthy sibling are haplo‐identical, suggesting that this protracted form of juvenile NCL is not linked to the CLN3 locus. In the second family, which is of Moroccan origin, one patient suffers from the early juvenile variant of NCL (Lake‐Cavanagh). In this family, the patient and one of the healthy siblings have identical haplotypes, excluding linkage of early juvenile NCL to the CLN3 locus on 16p12.1‐11.2. Therefore, these cases from different populations demonstrate that haplotype analysis can be used as an additional method to exclude the diagnosis of juvenile NCL. © 1995 Wiley‐Liss, Inc.