Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
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DOI：
10.1016/j.dnarep.2008.01.014
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发表时间：
2008-05-03
期刊：
影响因子：
3.8
通讯作者：
Lehmann, Alan R.
中科院分区：
文献类型：
--
作者：
Kleijer, Wim J.;Laugel, Vincent;Lehmann, Alan R.
在西欧，DNA修复疾病的实验室诊断从七十年代初开始用于色素性干皮病（XP），从八十年代中期开始用于考凯恩综合征（CS）和毛硫营养不良症（TTD）。对来自法国、（西）德国、意大利、荷兰和联合王国DNA修复诊断中心的综合数据进行了三组疾病的调查：XP（包括XP-变体）、CS（包括XP/CS复合体）和TTD。西欧的发病率首次确定为XP每百万活产2.3例，CS每百万活产2.7例，TTD每百万活产1.2例。由于移民人口在患者群体中的比例不成比例，因此也确定了西欧本土人口的发病率：XP为每百万人0.9，CS为每百万人1.8，TTD为每百万人1.1。也许与一般的观念相反，与XP相比，在西欧本土人群中，CS的发病率似乎要高一些，而TTD的发病率也非常相似。(c) 2008 Elsevier B.V.版权所有
Laboratory diagnosis for DNA repair diseases has been performed in western Europe from the early seventies for xeroderma pigmentosum (XP) and from the mid-eighties for Cockayne syndrome (CS) and trichothiodystrophy (TTD). The combined data from the DNA repair diagnostic centres in France, (West) Germany, Italy, the Netherlands and the United Kingdom have been investigated for three groups of diseases: XP (including XP-variant), CS (including XP/CS complex) and TTD. Incidences in western Europe were for the first time established at 2.3 per million livebirths for XP, 2.7 per million for CS and 1.2 per million for TTD. As immigrant populations were disproportionately represented in the patients' groups, incidences were also established for the autochthonic western European population at: 0.9 per million for XP, 1.8 per million for CS and 1.1 per million for TTD. Perhaps contrary to general conceptions, compared to XP the incidence of CS appears to be somewhat higher and the incidence of TTD to be quite similar in the native West-European population. (c) 2008 Elsevier B.V. All rights reserved.