Saitoh S, Mutirangura A, Kuwano A, Ledbetter D H, Niikawa N
Department of Human Genetics, Nagasaki University School of Medicine, Japan.
Am J Med Genet. 1994 Mar 1;50(1):64-7. doi: 10.1002/ajmg.1320500114.
Since our previous report on two Prader-Willi syndrome (PWS) patients with t(15q;15q) (Niikawa and Ishikiriyama; Hum Genet 69:22-27, 1985) was erroneous, we report here new data and a corrected interpretation. Reexamination of the parental origin of their t(15q;15q) using polymorphic DNA markers that are mapped to various regions of 15q documented no molecular deletions at the 15q11-q13 region in either patient. Both patients were homozygous at all loci examined and their haplotypes on 15q coincided with one of those in their respective mothers. These results indicate that the presumed t(15q;15q) in each patient was actually an isochromosome 15q producing maternal uniparental disomy, consistent with genomic imprinting at the PWS locus.
由于我们之前关于两名患有t(15q;15q)的普拉德-威利综合征（PWS）患者的报告（新川和石城山；《人类遗传学》69:22 - 27，1985年）有误，我们在此报告新的数据及修正后的解读。利用定位到15q不同区域的多态性DNA标记对他们的t(15q;15q)的亲本来源进行重新检测，结果表明两名患者的15q11 - q13区域均未发生分子缺失。在所有检测位点上，两名患者均为纯合子，且他们15q上的单倍型与各自母亲的其中一种单倍型一致。这些结果表明，每名患者中推测的t(15q;15q)实际上是一条等臂染色体15q，产生了母源单亲二体，这与PWS位点的基因组印记相符。
