Lerer I, Meiner V, Pashut-Lavon I, Abeliovich D
Department of Human Genetics, Hadassah Hebrew University Hospital, Ein Kerem, Jerusalem, Israel.
Am J Med Genet. 1994 Aug 1;52(1):79-84. doi: 10.1002/ajmg.1320520116.
We describe our experience in the molecular diagnosis of 22 patients suspected of Prader-Willi syndrome (PWS) using a DNA probe PW71 (D15S63) which detects a parent-of-origin specific methylated site in the PWS critical region. The cause of the syndrome was determined as deletion or uniparental disomy according to the segregation of (CA)n dinucleotide repeat polymorphisms of the PWS/AS region and more distal markers of chromosome 15. In 10 patients the clinical diagnosis was confirmed by this approach, 6 with paternal deletion and 4 with maternal disomy. In one patient, the aberrant methylation pattern that was detected by PW71 could not be confirmed by the segregation of (CA)n, probably due to paternal microdeletion in the PWS critical region which did not include the loci D15S97, D15S113, GABRB3, and GABRA5. This case demonstrates the advantage of the DNA probe PW71 in the diagnosis of PWS.
我们描述了使用DNA探针PW71（D15S63）对22例疑似普拉德-威利综合征（PWS）患者进行分子诊断的经验，该探针可检测PWS关键区域中源自亲本的特定甲基化位点。根据PWS/AS区域的（CA）n二核苷酸重复多态性和15号染色体更远端标记的分离情况，确定该综合征的病因是缺失或单亲二体。通过这种方法，10例患者的临床诊断得到证实，其中6例为父源缺失，4例为母源二体。在1例患者中，PW71检测到的异常甲基化模式无法通过（CA）n的分离得到证实，这可能是由于PWS关键区域的父源微缺失，该区域不包括位点D15S97、D15S113、GABRB3和GABRA5。该病例证明了DNA探针PW71在PWS诊断中的优势。
