Callen D F, Baker E, Lane S, Nancarrow J, Thompson A, Whitmore S A, MacLennan D H, Berger R, Cherif D, Järvelä I
Department of Cytogenetics and Molecular Genetics, Adelaide Children's Hospital.
Am J Hum Genet. 1991 Dec;49(6):1372-7.
The gene for Batten disease (CLN3) has been mapped to human chromosome 16 by demonstration of linkage to the haptoglobin locus, and its localization has been further refined using a panel of DNA markers. The aim of this work was to refine the genetic and physical mapping of this disease locus. Genetic linkage analysis was carried out in a larger group of families by using markers for five linked loci. Multipoint analysis indicated a most likely location for CLN3 in the interval between D16S67 and D16S148 (Z = 12.5). Physical mapping of linked markers was carried out using somatic cell hybrid analysis and in situ hybridization. A mouse/human hybrid cell panel containing various segments of chromosome 16 has been constructed. The relative order and physical location of breakpoints in the proximal portion of 16p were determined. Physical mapping in this panel of the markers for the loci flanking CLN3 positioned them to the bands 16p12.1----16p12.3. Fluorescent in situ hybridization of metaphase chromosomes by using these markers positioned them to the region 16p11.2-16p12.1. These results localize CLN3 to an interval of about 2 cM in the region 16p12.
通过证明与触珠蛋白基因座的连锁关系，巴滕病（CLN3）基因已被定位到人类16号染色体上，并且利用一组DNA标记进一步精确了其定位。这项工作的目的是完善该疾病基因座的遗传图谱和物理图谱。通过使用五个连锁基因座的标记，在更多家庭中进行了遗传连锁分析。多点分析表明CLN3最可能位于D16S67和D16S148之间的区间（Z = 12.5）。使用体细胞杂交分析和原位杂交对连锁标记进行物理图谱绘制。构建了一个包含16号染色体各个片段的小鼠/人类杂交细胞系。确定了16p近端断点的相对顺序和物理位置。在这个细胞系中对CLN3两侧基因座的标记进行物理图谱绘制，将它们定位到16p12.1----16p12.3带。使用这些标记对中期染色体进行荧光原位杂交，将它们定位到16p11.2 - 16p12.1区域。这些结果将CLN3定位到16p12区域约2 cM的区间内。
Zotero 插件