Sister chromatid exchange analysis in the Prader-Labhart-Willi syndrome.
Sister chromatid exchange analysis in the Prader-Labhart-Willi syndrome.
复制标题
Prader-Labhart-Willi 综合征中的姐妹染色单体交换分析。
DOI：
10.1002/ajmg.1320280406
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发表时间：
1987
期刊：
影响因子：
--
通讯作者：
Jenkins,BB
中科院分区：
文献类型：
--
作者：
Butler,MG;Jenkins,BB
研究人员对 16 名 Prader-Lab-hart-Willi 综合征 (PLWS) 患者的淋巴细胞中的姐妹染色单体交换 (SCE) 数量和细胞动力学进行了研究 [8 名 15ql2 缺失患者（4 名女性，4 名男性；xage = 12.9y，年龄范围为 0.3 至 24 岁），以及 8 名非缺失患者（2 名女性，6 名男性；xage = 16.8y，年龄范围为 15 岁） 5 至 26y)]，18 名 PLWS 患者的父母和年龄匹配的对照个体。有和没有 15 号染色体缺失的 PLWS 患者的平均 SCE 频率和标准差分别为 6.6 ± 1.3 和 6.2 ± 0.8。因此，两个 PLWS 亚组之间的 SCE 频率或复制指数没有显着差异。 16 名 PLWS 患者和年龄匹配的对照受试者之间的 SCE 频率或复制指数也没有显着差异。先前被确定捐献了孩子 15 号染色体缺失的 8 名父亲的平均 SCE 频率和标准差为 7.5 ± 1.2，与年龄匹配的对照受试者中的 8.5 ± 2.0 没有显着差异。与年龄匹配的对照受试者相比，有或没有 15 号染色体缺失的 PLWS 患者的 18 名父母的 SCE 频率或复制指数也没有显着差异。
The number of sister chromatid exchanges (SCE) and cell kinetics in lymphocytes were investigated from 16 Prader‐Lab‐hart‐Willi syndrome (PLWS) patients [8 with 15ql2 deletion (4 females, 4 males;xage = 12.9y with age range of 0.3 to 24y), and 8 non‐deletion (2 females, 6 males;xage = 16.8y with age range of 5 to 26y)], 18 parents of PLWS patients and age‐matched control individuals. The average SCE frequency and standard deviation in PLWS patients with and without the chromosome 15 deletion was 6.6 ± 1.3 and 6.2 ± 0.8, respectively. Therefore no significant difference in SCE frequency or replicative index was found between the two PLWS subgroups. There was also no significant difference in SCE frequency or replicative index between the 16 PLWS patients and age‐matched control subjects. The average SCE frequency and standard deviation in 8 fathers who were previously identified to have donated the chromosome 15 with the deletion in the child was 7.5 ± 1.2, which was not significantly different from 8.5 ± 2.0 seen in age‐matched control subjects. There was also no significant difference in the SCE frequency or replicative index of 18 parents of PLWS patients with and without the chromosome 15 deletion when compared with age‐matched control subjects.