Thi Lan Anh Luong, Thu Lan Hoang, Duc Phan Tran, Thi Mai Le, Hien Tran, Phuong Thuy Ho, Huyen Nga Hoang, Hoa Giang, Duy Linh Vu, Nghi Huu Dinh, Manh Tan Nguyen, Huu Sau Nguyen
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引用次数: 0
Abstract
Xeroderma pigmentosum (XP) disorder is recognized as a genetic condition inherited by autosomal recessive fashion. XP results from a defective DNA repair mechanism that significantly increases skin cancer risk. Fifteen Vietnamese patients were investigated with typical clinical manifestations of XP. Eight XP genes (XPA to XPG and POLH/XPV) were sequenced using peripheral blood samples. Overall, three novel variants on the XPA and XPV genes were detected in members of two families. One novel missense variant c.388A>G (p.R130G) of XPA was found in three patients with XP group A, two novel variants: c.680G>A (p.C227Y) and c.1652dupC (p.Gln553Profs*8) of XPV in one patient with XP group F/G. Our study contributes to the recognition of new mutations in XP patients which have not been reported in Human Gene Mutation Database (HGMD).
色素沉着病（XP）是一种常染色体隐性遗传疾病。XP由DNA修复机制缺陷引起，会显著增加患皮肤癌的风险。研究人员对 15 名具有 XP 典型临床表现的越南患者进行了调查。利用外周血样本对八个 XP 基因（XPA、XPG 和 POLH/XPV）进行了测序。总的来说，在两个家族的成员中检测到了 XPA 和 XPV 基因的三个新型变异。在三名A组XP患者中发现了XPA的一个新型错义变异c.388A>G（p.R130G），在一名F/G组XP患者中发现了XPV的两个新型变异：c.680G>A（p.C227Y）和c.1652dupC（p.Gln553Profs*8）。我们的研究有助于识别 XP 患者的新变异，这些变异尚未在人类基因突变数据库（HGMD）中报告。
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