Yan W, Boustany R M, Konradi C, Ozelius L, Lerner T, Trofatter J A, Julier C, Breakefield X O, Gusella J F, Haines J L
Molecular Neurogenetics Laboratory, Massachusetts General Hospital, Charlestown 02129.
Am J Hum Genet. 1993 Jan;52(1):89-95.
The neuronal ceroid lipofuscinoses (NCL) are a group of progressive neurodegenerative disorders characterized by the deposition of autofluorescent proteinaceous fingerprint or curvilinear bodies. We have found that CLN3, the gene underlying the juvenile form of NCL, is very tightly linked to the dinucleotide repeat marker D16S285 on chromosome 16. Integration of D16S285 into the genetic map of chromosome 16 by using the Centre d'Etude du Polymorphisme Humain panel of reference pedigrees yielded a favored marker order in the CLN3 region of qtel-D16S150-.08-D16S285-.04-D16S148-.02-D16S 67-ptel. The most likely location of the disease gene, near D16S285 in the D16S150-D16S148 interval, was favored by odds of greater than 10(4):1 over the adjacent D16S148-D16S67 interval, which was recently reported as the minimum candidate region. Analysis of D16S285 in pedigrees with late-infantile NCL virtually excluded the CLN3 region, suggesting that these two forms of NCL are genetically distinct.
神经元蜡样脂褐质沉积症（NCL）是一组进行性神经退行性疾病，其特征是自体荧光蛋白指纹或曲线体的沉积。我们发现，青少年型NCL的致病基因CLN3与16号染色体上的二核苷酸重复标记D16S285紧密连锁。利用人类多态性研究中心的参考家系面板将D16S285整合到16号染色体的遗传图谱中，在CLN3区域产生了一个有利的标记顺序：qtel-D16S150-.08-D16S285-.04-D16S148-.02-D16S 67-ptel。疾病基因最可能的位置在D16S150-D16S148区间内靠近D16S285的地方，与相邻的D16S148-D16S67区间相比，其优势比大于10(4):1，而D16S148-D16S67区间最近被报道为最小候选区域。对晚婴儿型NCL家系中的D16S285进行分析实际上排除了CLN3区域，这表明这两种形式的NCL在遗传上是不同的。
