全基因组搜索导致晚发性婴儿神经元蜡样脂褐质沉积症（LNCL）的CLN2基因。
Genome-wide search for CLN2, the gene causing late-infantile neuronal ceroid-lipofuscinosis (LNCL).
作者信息
Haines J L, Boustany R M, Worster T, Ter-Minassian M, Jondro P, Lerner T J
机构信息
Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown 02129, USA.
出版信息
Am J Med Genet. 1995 Jun 5;57(2):344-7. doi: 10.1002/ajmg.1320570248.
The loci for the juvenile (CLN3) and infantile (CLN1) neuronal ceroid lipofuscinosis (NCL) types have been mapped by genetic linkage analysis to chromosome arms 16p and 1p, respectively. The late-infantile defect CLN2 has not yet been mapped, although linkage analysis with tightly linked markers excludes it from both the JNCL and INCL loci. We have initiated a genome-wide search for the LNCL gene, taking advantage of the large collection of highly polymorphic markers that has been developed through the Human Genome Initiative. The high degree of heterozygosity of these markers makes it feasible to carry out successful linkage analysis in small nuclear families, such as found in LNCL. Our current collection of LNCL pedigrees includes 19 US families and 11 Costa Rican families. To date, we have completed typing with over 50 markers on chromosomes 2, 9, 13, and 18-22. The results of this analysis formally exclude about 10% of the human genome as the location of the LNCL gene.
青少年型（CLN3）和婴儿型（CLN1）神经元蜡样脂褐质沉积症（NCL）的基因座已通过遗传连锁分析分别定位到染色体臂16p和1p上。晚婴儿型缺陷CLN2尚未定位，尽管与紧密连锁标记的连锁分析将其排除在青少年型NCL和婴儿型NCL基因座之外。我们利用人类基因组计划开发的大量高度多态性标记，启动了全基因组范围内寻找晚婴儿型NCL基因的研究。这些标记的高度杂合性使得在小型核心家庭（如晚婴儿型NCL中所见）中成功进行连锁分析成为可能。我们目前收集的晚婴儿型NCL家系包括19个美国家庭和11个哥斯达黎加家庭。迄今为止，我们已经完成了对2号、9号、13号和18号至22号染色体上50多个标记的分型。该分析结果正式排除了约10%的人类基因组作为晚婴儿型NCL基因的位置。
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