Mitchison H M, Thompson A D, Mulley J C, Kozman H M, Richards R I, Callen D F, Stallings R L, Doggett N A, Attwood J, McKay T R
Department of Paediatrics, University College London Medical School, Rayne Institute, United Kingdom.
Genomics. 1993 May;16(2):455-60. doi: 10.1006/geno.1993.1210.
Batten disease, juvenile onset neuronal ceroid lipofuscinosis, is an autosomal recessive neurodegenerative disorder characterized by accumulation of autofluorescent lipopigment in neurons and other cell types. The disease locus (CLN3) has previously been assigned to chromosome 16p. The genetic localization of CLN3 has been refined by analyzing 70 families using a high-resolution map of 15 marker loci encompassing the CLN3 region on 16p. Crossovers in three maternal meioses allowed localization of CLN3 to the interval between D16S297 and D16S57. Within that interval alleles at three highly polymorphic dinucleotide repeat loci (D16S288, D16S298, D16S299) were found to be in strong linkage disequilibrium with CLN3. Analysis of haplotypes suggests that a majority of CLN3 chromosomes have arisen from a single founder mutation.
少年型神经元蜡样脂褐质沉积病（Batten病）是一种常染色体隐性神经退行性疾病，其特征是在神经元和其他细胞类型中积聚自发荧光脂色素。该疾病基因座（CLN3）先前已被定位于16号染色体短臂。通过使用包含16号染色体短臂上CLN3区域的15个标记基因座的高分辨率图谱分析70个家系，CLN3的基因定位得到了优化。在三个母本减数分裂中的交叉使CLN3定位于D16S297和D16S57之间的区间。在该区间内，发现三个高度多态性二核苷酸重复基因座（D16S288、D16S298、D16S299）的等位基因与CLN3存在强连锁不平衡。单倍型分析表明，大多数CLN3染色体源自单一的奠基者突变。
