Gao Hong, Zhang Zhi-Bo, Ou Yang-Ling, Zhang Ke-Ren, Wang Wei-Lin
Major Laboratory of Ministry of Health for Congenital Malformations, Second Affiliated Hospital of China Medical University, Shengyang 110004, China.
Zhonghua Zhong Liu Za Zhi. 2006 Dec;28(12):915-9.
To establish stable techniques of comparative genomic hybridization (CGH) and apply them to elucidate the genetic characteristics of hepatoblastoma (HB), and to explore the characteristics and clinical significance of loss of heterozygosity (LOH) at 1p36 in HB.
CGH was employed to detect the genomic imbalance (DNA loss or amplification) in 20 cases of HB, and PCR-simple repeated sequence polymorphism was employed in 30 cases of HB to detect the loss of heterozygosity for 6 satellites at chromosome 1p36.
There were different chromosome variations for each HB. chromosome amplification was frequently seen in 1q, 2q,2p, 8q, 8p, 12q and 22q. Chromosome loss was often seen in 1p, 4q, 4p, 16q, 17p and 18q. The frequency of LOH at 6 loci on chromosome 1 was 63.3% totally (19/30), with the highest D1S199 (66.7%) and D1S450 next to it (46.7%).
There were chromosome zones with DNA amplification or loss in hepatoblastoma. There are extensive LOH at 1p36 in hepatoblastoma. The corresponding amplification of oncogene and loss of antioncogene may take part in the development of hepatoblastoma.
建立稳定的比较基因组杂交（CGH）技术并应用于阐明肝母细胞瘤（HB）的遗传特征，探讨HB中1p36杂合性缺失（LOH）的特征及临床意义。
采用CGH检测20例HB的基因组失衡（DNA缺失或扩增），采用聚合酶链反应 - 简单重复序列多态性检测30例HB中1p36染色体上6个卫星序列的杂合性缺失。
各例HB均有不同的染色体变异。染色体扩增常见于1q、2q、2p、8q、8p、12q和22q。染色体缺失常见于1p、4q、4p、16q、17p和18q。1号染色体上6个位点的LOH总频率为63.3%（19/30），其中D1S199最高（66.7%），其次是D1S450（46.7%）。
肝母细胞瘤存在DNA扩增或缺失的染色体区域。肝母细胞瘤中1p36存在广泛的LOH。相应的癌基因扩增和抑癌基因缺失可能参与肝母细胞瘤的发生发展。
