Rothmund—Thomson综合征一例RECQL4基因的突变分析

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

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3401A→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3401A〉T。

Objective To detect the mutations in RECQLA 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 1VS11-1G 〉 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.