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Prader－Willi综合征是由于缺少父源染色体15q11－13区带（包括父源缺失或母源单亲二体）和少见的印迹突变所致的神经发育异常的非孟氏遗传性疾病。为在分子水平对该病做出诊断，我们利用染色体15q11－13区带的7个位点和标志探针，其中包括二个甲基化位点的PW71和SNRPN探针（只需患儿样本）．用Southern印迹杂交的方法，对临床诊断的一个家系和一个患儿的外周血DNA进行分析。在二个标志基因上发现了母源单亲二体，标志基因上母源单亲二体是Prader－Willi综合征的分子水平诊断依据。
Prader-Willi Syndrome is a non-Monteggian hereditary disease due to a lack of neurodevelopmental abnormalities due to the 15q11-13 band of the paternal (including paternal or maternal twins) and infrequent imprinting mutations. To diagnose the disease at the molecular level, we utilized seven loci and marker probes on chromosome 15q11-13, including two methylated PW71 and SNRPN probes (only children with samples ). Southern blotting was used to analyze the peripheral blood DNA of one pedigree and one pediatric patient diagnosed clinically. In the two marker genes found in the maternal single-parent dyadic, maternal genetically parental dyadic body is Prader-Willi syndrome molecular diagnostic basis.