ANGELMAN AND PRADER-WILLI SYNDROMES SHARE A COMMON CHROMOSOME-15 DELETION BUT DIFFER IN PARENTAL ORIGIN OF THE DELETION
ANGELMAN AND PRADER-WILLI SYNDROMES SHARE A COMMON CHROMOSOME-15 DELETION BUT DIFFER IN PARENTAL ORIGIN OF THE DELETION
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DOI：
10.1002/ajmg.1320320235
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发表时间：
1989-02-01
期刊：
影响因子：
--
通讯作者：
LATT, SA
中科院分区：
文献类型：
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作者：
KNOLL, JHM;NICHOLLS, RD;LATT, SA
许多Prader-Willi综合征（PWS）和Angelman综合征（AS）患者具有15q11q13的细胞遗传学缺失。虽然AS和PWS具有相似的细胞遗传学异常，但它们具有非常不同的临床表型。使用5个染色体15q11q13特异性克隆DNA片段检测4例AS患者的DNA。在目前的分辨率水平下，AS和先前报道的PWS之间的分子缺失似乎没有差异。然而，与在大多数PWS患者中观察到的缺失的15号染色体的父系遗传相反，通过限制性片段长度多态性（RFLPs）在AS患者中证实了缺失的15号染色体的母系遗传。
Many Prader-Willi syndrome (PWS) and Angelman syndrome (AS) patients have a cytogenetic deletion of 15q11q13. While AS and PWS share a similar cytogenetic anomaly, they have very different clinical phenotypes. DNAs from 4 AS patients were examined using 5 chromosome 15q11q13-specific cloned DNA segments. With the present level of resolution, the molecular deletions between AS and those previously reported for PWS did not appear to differ. However, in contrast to the paternal inheritance of the deleted chromosome 15 observed in the majority of PWS patients, maternal inheritance of the deleted chromosome 15 was demonstrated in the AS patients by restriction fragment length polymorphisms (RFLPs).