中华皮肤科杂志 ›› 2009, Vol. 42 ›› Issue (1): 28-30.

• 论著 • 上一篇    下一篇

Rothmund-Thomson综合征一例RECQL4基因的突变分析

党林 栗玉珍 于淞   

  1. 哈尔滨医科大学附属第二医院皮肤科 哈尔滨医科大学附属第二医院皮肤科 哈尔滨医科大学附属第二医院皮肤科
  • 收稿日期:2008-02-15 修回日期:2008-05-07 出版日期:2009-01-15 发布日期:2009-01-15
  • 通讯作者: 党林 E-mail:dang1555@163.com

Mutation analysis in RECQL4 gene in a patient with Rothmund-Thomson syndrome

  • Received:2008-02-15 Revised:2008-05-07 Online:2009-01-15 Published:2009-01-15

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摘要：

目的 检测1例Rothmund-Thomson 综合征患者及其父母的RECQL4基因突变情况。方法收集1例中国汉族Rothmund-Thomson 综合征患儿及其父母的外周血标本，提取其外周血DNA，采用PCR扩增RECQL4基因编码区的全部外显子，DNA测序仪直接测序，明确突变位点，并以同样方法检测30例无关正常人作对照。结果 患者RECQL4基因发生2处突变：剪接位点突变IVS11-1G→A和无义突变3401 A→T，两突变分别来自其父母。30例正常人对照组不存在此两种突变。结论 该患者存在RECQL4基因的剪接位点突变IVS11-1G > A和无义突变3401 A > T。

关键词: Rothmund-Thomson 综合征;RECQL4基因;突变

Abstract:

Objective To detect the mutations in RECQL4 gene in a Chinese patient with Rothmund- Thomson syndrome（RTS）. Methods Blood samples were collected from a sporadic patient with RTS, his unaffected parents and 30 unrelated population-matched controls. DNA was extracted, and all the coding sequences of RECQL4 gene were amplified by PCR. Direct sequencing was performed with the amplicons to detect the possible mutations in these subjects. Results Two mutations, i.e., IVS11-1G > A and 3401 A > T, which resulted in a premature termination codon at amino acid 560, were found in the RECQL4 gene of the patient. His father was heterozygous for IVS11-1G > A, and his mother for 3401 A > T. Meanwhile, neither of the two mutations were observed in 30 unrelated normal control individuals. Conclusion Two mutations, including IVS11-1G > A and 3401 A > T are present in the RECQL4 gene of the sporadic patient with RTS.

Key words: Rothmund-Thomson syndrome;RECQL4 Gene;Mutation