Aledo R, Avril M F, Dutrillaux B, Aurias A
Structure et Mutagenèse Chromosomiques, CNRS UA 620, Paris.
Ann Genet. 1988;31(4):211-5.
A cytogenetic study of the lymphocytes from 6 classic and 4 variant forms of xeroderma pigmentosum is reported. This study performed on 978 R-banded metaphases shows that there is no specific chromosomal rearrangement in this disorder. In UDS-deficient forms, the rates of deletions, chromatid gaps and chromosome gaps are significantly increased. The preferential involvement of G-bands is discussed.
本文报道了对6例典型和4例变异型着色性干皮病患者淋巴细胞的细胞遗传学研究。对978个经R显带处理的中期分裂相进行的这项研究表明，该疾病不存在特异性染色体重排。在缺乏非程序DNA合成（UDS）的类型中，缺失、染色单体裂隙和染色体裂隙的发生率显著增加。文中还讨论了G带的优先受累情况。
