Caron H, van Sluis P, van Hoeve M, de Kraker J, Bras J, Slater R, Mannens M, Voûte P A, Westerveld A, Versteeg R
Institute of Human Genetics, Academic Medical Centre, University of Amsterdam, The Netherlands.
Nat Genet. 1993 Jun;4(2):187-90. doi: 10.1038/ng0693-187.
Neuroblastomas frequently have deletions of chromosome 1p and amplification of the N-myc oncogene. We analysed 53 neuroblastomas for the N-myc copy number, loss of heterozygosity (LOH) of chromosome 1p36 and the parental origin of the lost alleles. Allelic loss of 1p36 was found in 15 tumours. All N-myc amplified tumours belonged to this subset. In 13/15 tumours with LOH of 1p36 the lost allele was of maternal origin. This non-random distribution implies that the two alleles of the putative neuroblastoma suppressor gene on chromosome 1p36 are functionally different, depending on their parental origin. This is the first evidence as far as we know for genomic imprinting on chromosome 1p.
神经母细胞瘤常常存在1号染色体短臂缺失以及N - myc癌基因扩增。我们分析了53例神经母细胞瘤的N - myc拷贝数、1号染色体短臂36区杂合性缺失（LOH）以及缺失等位基因的亲本来源。在15例肿瘤中发现了1号染色体短臂36区的等位基因缺失。所有N - myc扩增的肿瘤都属于这一亚组。在15例1号染色体短臂36区杂合性缺失的肿瘤中，有13例缺失的等位基因来自母本。这种非随机分布意味着1号染色体短臂36区假定的神经母细胞瘤抑制基因的两个等位基因在功能上是不同的，这取决于它们的亲本来源。据我们所知，这是1号染色体上基因组印记的首个证据。
