Prenatal diagnosis of Xeroderma pigmentosum and Trichothiodystrophy in 76 pregnancies at risk
Prenatal diagnosis of Xeroderma pigmentosum and Trichothiodystrophy in 76 pregnancies at risk
复制标题
DOI：
10.1002/pd.1849
复制
发表时间：
2007-12-01
影响因子：
3
通讯作者：
Jaspers, Nicolaas G. J.
中科院分区：
文献类型：
--
作者：
Kleijer, Wim J.;van der Sterre, Marianne L. T.;Jaspers, Nicolaas G. J.
目的对1977年以来76例色素性干皮病（XP）和毛硫营养不良（TTD）的产前诊断结果进行评价。方法采用放射自显影法测定h -3-胸腺嘧啶掺入量，评价紫外光诱导的DNA修复合成。结果76例高危妊娠中有19例诊断为XP；培养的绒毛膜绒毛（CV）细胞用于33例10胎的妊娠，培养的羊膜细胞用于43例9胎的妊娠。在四个病例中，CVS结果被随后的羊膜细胞调查证实，因为CV细胞培养中的母细胞污染要么存在，要么不能排除。另外两例DNA修复能力中等且母体细胞严重污染的病例结果不确定，需要进一步调查。细胞培养和分析所需的中位时间为25天。为了减少测定内的变异，最近开发了一种DNA修复合成测定的修改方法。在这个实验中，患者和对照组同时在用聚苯乙烯珠标记的细胞混合培养中进行研究。结论由于全基因组核苷酸切除修复缺陷，紫外线诱导的DNA修复合成明显减少，可以对XP和TTD进行可靠的产前诊断。版权所有(C) 2007约翰威利父子有限公司
Objective Evaluation of results in a consecutive series of 76 prenatal diagnoses for xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) made since 1977.Methods UV-induced DNA repair synthesis was assessed by the autoradiographic measurement of the incorporation of H-3-thymidine.Results XP was diagnosed in 19 of the 76 investigated pregnancies at risk; cultured chorionic villus (CV) cells were used in 33 pregnancies with ten affected fetuses and cultured amniocytes in 43 pregnancies with nine affected fetuses. In four cases, CVS results were corroborated by subsequent investigation of amniocytes because maternal cell contamination in the CV cell culture was either present or could not be excluded. Uncertain results in two other cases with intermediate DNA repair capacity and severe maternal cell contamination required further investigation. Median time needed for cell culture and analysis was 25 days. To reduce intra-assay variations, a modification of the DNA repair synthesis assay has recently been developed. In this assay, patients and controls are investigated simultaneously in mixed cultures of cells labelled with polystyrene beads.Conclusion Reliable prenatal diagnosis for XP and TTD can be made by the demonstration of clearly reduced UV-induced DNA repair synthesis due to defective global genome nucleotide excision repair. Copyright (C) 2007 John Wiley & Sons, Ltd.