通过单倍型和等位基因关联分析，将巴顿病基因座（CLN3）定位于D16S288 - D16S383区间。
Genetic mapping of the Batten disease locus (CLN3) to the interval D16S288-D16S383 by analysis of haplotypes and allelic association.
作者信息
Mitchison H M, Taschner P E, O'Rawe A M, de Vos N, Phillips H A, Thompson A D, Kozman H M, Haines J L, Schlumpf K, D'Arigo K
机构信息
Department of Paediatrics, University College London Medical School, Rayne Institute, United Kingdom.
出版信息
Genomics. 1994 Jul 15;22(2):465-8. doi: 10.1006/geno.1994.1412.
CLN3, the gene for juvenile-onset neuronal ceroid lipofuscinosis (JNCL) or Batten disease, has been localized by genetic linkage analysis to chromosome 16p between loci D16S297 and D16S57. We have now further refined the localization of CLN3 by haplotype analysis using two new microsatellite markers from loci D16S383 and SPN in the D16S297-D16S57 interval on a larger collaborative family resource consisting of 142 JNCL pedigrees. Crossover events in 3 maternal meioses define new flanking markers for CLN3 and localize the gene to the interval at 16p12.1-p11.2 between D16S288 and D16S383, which corresponds to a genetic distance of 2.1 cM. Within this interval 4 microsatellite loci are in strong linkage disequilibrium with CLN3, and extended haplotype analysis of the associated alleles indicates that CLN3 is in closest proximity to loci D16S299 and D16S298.
CLN3基因与青少年型神经元蜡样脂褐质沉积症（JNCL）即巴滕病相关，通过遗传连锁分析已将其定位于16号染色体短臂上D16S297和D16S57两个位点之间。我们现在利用位于D16S297 - D16S57区间内来自D16S383和SPN位点的两个新微卫星标记，通过单倍型分析，在由142个JNCL家系组成的更大规模协作家庭资源中进一步精确了CLN3基因的定位。在3次母本减数分裂中的交叉事件为CLN3确定了新的侧翼标记，并将该基因定位于16p12.1 - p11.2区间，位于D16S288和D16S383之间，这相当于2.1厘摩的遗传距离。在这个区间内，4个微卫星位点与CLN3处于强连锁不平衡状态，对相关等位基因的扩展单倍型分析表明CLN3与D16S299和D16S298位点最为接近。
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