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Ptader-willi 综合征(PWS)是与肥胖有关的畸形综合征中最常见的一种类型。其特征是婴幼儿期肌张力低、智力低下、身材矮小、生殖器发育不全、肢体畸形及特殊面容。研究发现约60％患者15号染色体长臂近端有中间缺失,几乎均发生在父源同源染色体上。没有15q 缺失的 PWS 患者,母源15号染色体为异源二倍体。本文研究表明 PWS基因组印迹是 PWS 表型的病理遗传学基础。因此,在同源15q11.2之间可能见到DNA 复制不同步。本文用迟复制 X 染色体的复制为标志,取7名正常健康女性末梢血
Ptader-willi syndrome (PWS) is the most common type of deformity syndrome associated with obesity. It is characterized by low early childhood muscle tone, mental retardation, short stature, genital hypoplasia, limb deformities and special face. The study found that about 60% of patients on chromosome 15 near the middle of the long arm, there are almost all occurred in the paternal homologous chromosomes. In the absence of 15q-deficient patients with PWS, maternal chromosome 15 is a heteroduplex. Our study shows that PWS genomic imprinting is the pathological basis of PWS phenotype. Therefore, it is possible to see DNA replication asynchronous between homologous 15q11.2. In this paper, replication of the late copy of the X chromosome as a marker, take seven normal healthy female peripheral blood