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患有天使综合征或普拉德-威利综合征家庭中的姐妹染色单体交换

Sister chromatid exchange in families with Angelman or Prader-Willi syndrome.

作者信息

Webb T

机构信息

Department of Clinical Genetics, Birmingham Maternity Hospital, UK.

出版信息

Clin Genet. 1994 Aug;46(2):181-6. doi: 10.1111/j.1399-0004.1994.tb04221.x.

Abstract

Using estimation of numbers of sister chromatid exchanges arising in 15q11q13 as a measure, comparisons of the stability of the Prader-Willi syndrome critical region have been made. The groups studied included probands with Prader-Willi or Angelman syndromes either with or without a cytogenetically visible deletion in 15q11q13, their parents, specifically those parents who had passed on the homologue which had become deleted, and a control group. No significant differences were found between any of the four groups, indicating that there was no increase in the instability of the PWSCR region as measured by sister chromatid exchange.

摘要

以15q11q13区域中姐妹染色单体交换数目的估计作为衡量标准,对普拉德-威利综合征关键区域的稳定性进行了比较。所研究的群体包括患有普拉德-威利综合征或天使综合征的先证者,他们在15q11q13区域有或没有细胞遗传学可见的缺失,他们的父母,特别是那些传递了已缺失同源物的父母,以及一个对照组。在这四组中的任何一组之间均未发现显著差异,这表明通过姐妹染色单体交换测量,普拉德-威利综合征关键区域的不稳定性没有增加。

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