Taschner P E, de Vos N, Thompson A D, Callen D F, Doggett N, Mole S E, Dooley T P, Barth P G, Breuning M H
Department of Human Genetics, Leiden University, The Netherlands.
Am J Hum Genet. 1995 Mar;56(3):663-8.
The gene that is involved in juvenile neuronal ceroid lipofuscinosis (JNCL), or Batten disease--CLN3--has been localized to 16p12, and the mutation shows a strong association with alleles of microsatellite markers D16S298, D16S299, and D16S288. Recently, haplotype analysis of a Batten patient from a consanguineous relationship indicated homozygosity for a D16S298 null allele. PCR analysis with different primers on DNA from the patient and his family suggests the presence of a cytogenetically undetectable deletion, which was confirmed by Southern blot analysis. The microdeletion is embedded in a region containing chromosome 16-specific repeated sequences. However, putative candidates for CLN3, members of the highly homologous sulfotransferase gene family, which are also present in this region in several copies, were not deleted in the patient. If the microdeletion in this patient is responsible for Batten disease, then we conclude that the sulfotransferase genes are probably not involved in JNCL. By use of markers and probes flanking D16S298, the maximum size of the microdeletion was determined to be approximately 29 kb. The microdeletion may affect the CLN3 gene, which is expected to be in close proximity to D16S298.
与青少年神经元蜡样脂褐质沉积症（JNCL）即巴顿病相关的基因——CLN3基因，已被定位于16p12，且该突变与微卫星标记D16S298、D16S299和D16S288的等位基因有很强的关联性。最近，对一名近亲关系的巴顿病患者进行的单倍型分析表明其D16S298无效等位基因呈纯合状态。用不同引物对该患者及其家族的DNA进行PCR分析，提示存在一种细胞遗传学检测不到的缺失，Southern印迹分析证实了这一点。该微缺失位于一个包含16号染色体特异性重复序列的区域内。然而，CLN3的推定候选基因，即高度同源的磺基转移酶基因家族成员，在该区域也有多个拷贝，但在该患者中并未缺失。如果该患者的微缺失是导致巴顿病的原因，那么我们推断磺基转移酶基因可能与JNCL无关。通过使用位于D16S298两侧的标记和探针，确定该微缺失的最大大小约为29 kb。该微缺失可能影响CLN3基因，预计该基因与D16S298位置紧邻。
