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本文引用的文献

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Ancient origin of a Japanese xeroderma pigmentosum founder mutation.日本着色性干皮病奠基者突变的古老起源。
J Dermatol Sci. 2013 Feb;69(2):175-6. doi: 10.1016/j.jdermsci.2012.10.008. Epub 2012 Nov 9.
2
A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.北非人群着色性干皮病 C 组中存在普遍的具有创始效应的突变。
J Invest Dermatol. 2010 Jun;130(6):1537-42. doi: 10.1038/jid.2009.409. Epub 2010 Jan 7.
3
High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis.在突尼斯，V548A fs X572 XPC 突变的高频率：对分子诊断的影响。
J Hum Genet. 2009 Jul;54(7):426-9. doi: 10.1038/jhg.2009.50. Epub 2009 May 29.
4
Skin cancers, blindness, and anterior tongue mass in African brothers.非洲兄弟身上出现的皮肤癌、失明和舌前部肿物。
J Am Acad Dermatol. 2008 Nov;59(5):881-6. doi: 10.1016/j.jaad.2008.06.030.
5
XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms.患有和未患有神经症状的着色性干皮病患者中的XPC起始密码子突变
DNA Repair (Amst). 2009 Jan 1;8(1):114-25. doi: 10.1016/j.dnarep.2008.09.007. Epub 2008 Nov 14.
6
Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type.
J Dermatol Sci. 2008 Nov;52(2):144-8. doi: 10.1016/j.jdermsci.2008.07.001. Epub 2008 Aug 13.
7
Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy.西欧DNA修复缺陷疾病的发病率：着色性干皮病、科凯恩综合征和毛发硫营养不良。
DNA Repair (Amst). 2008 May 3;7(5):744-50. doi: 10.1016/j.dnarep.2008.01.014. Epub 2008 Mar 10.
8
Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship.着色性干皮病、毛发硫营养不良和科凯恩综合征：复杂的基因型-表型关系。
Neuroscience. 2007 Apr 14;145(4):1388-96. doi: 10.1016/j.neuroscience.2006.12.020. Epub 2007 Feb 1.
9
Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population.在XPA DNA修复基因中携带始祖突变的杂合个体占日本人口的近1%。
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Newborn screening: toward a uniform screening panel and system.新生儿筛查：迈向统一的筛查项目和系统。
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着色性干皮病的 founder 突变。

Founder mutations in xeroderma pigmentosum.

机构信息

Dermatology Branch, National Cancer Institute, Bethesda, MD 20892, USA.

出版信息

J Invest Dermatol. 2010 Jun;130(6):1491-3. doi: 10.1038/jid.2010.76.

DOI:10.1038/jid.2010.76
PMID:20463673
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3486739/
Abstract

In this issue, Soufir et al. report a founder mutation in the XPC DNA repair gene in 74% of families with xeroderma pigmentosum (XP) in the Maghreb region (Algeria, Morocco, and Tunisia) of northern Africa. These patients have a high frequency of skin cancer. The presence of this founder mutation provides an opportunity for genetic counseling and early diagnosis of XP.

摘要

在本期杂志中，Soufir 等人报道了北非马格里布地区（阿尔及利亚、摩洛哥和突尼斯） 74%的着色性干皮病（XP）患者的 XPC 基因中存在一个 DNA 修复基因突变。这些患者皮肤癌的发病率很高。这种突变的存在为遗传咨询和 XP 的早期诊断提供了机会。