安徽医科大学学报2016，Vol.51Issue(12)：1859-1862,4.DOI:10.19405/j.cnki.issn1000-1492.2016.12.034
应用PCR和FISH方法诊断X-连锁隐性鱼鳞病3例
Three patients with X-linked recessive ichthyosis to be diagnosed through PCR and FISH techniques
摘要
Abstract
To diagnose patients of X-linked recessive ichthyosis ( XLRI) involving a complete deletion of the ster-oid sulfatase( STS) gene detected with PCR and FISH. Cutaneous examination was performed and peripheral blood samples were collected from three patients affected XLRI. PCR amplification of both ends of the STS gene was first performed, and then FISH in metaphase leukocytes was performed with the cDNA STS probe. Finally, amplifica-tion of the regional markers from DXS1139 to DXF22S1 on the X chromosome was performed through PCR. PCR amplification both the ends of STS gene using genomic DNA failed to produce any amplicons. However, each exon was successfully amplified using genomic DNA and primers from control samples. Subsequently, FISH analyses showed no red signal for the STS gene and only one green signal for the X-chromosome centromere in three patients. Analyses of the deletion of STS gene and its flanking sequences in one Chinese pedigree with XLRI using polymer-ase chain reaction and fluorescence in situ hybridization techniques were performed,which has great significance for the genetic counseling.关键词
X连锁隐性鱼鳞病/STS基因/STS基因缺失/PCR/FISHKey words
X-linked recessive ichthyosis/STS gene/STS gene deletion/polymerasechain reaction/fluorescence in situ hybridization techniques分类
医药卫生引用本文复制引用
张学奇,刘晶晶,林孝华,邵笑红,蔡剑峰,徐云升,李智铭..应用PCR和FISH方法诊断X-连锁隐性鱼鳞病3例[J].安徽医科大学学报,2016,51(12):1859-1862,4.基金项目
温州科学技术局课题(编号:Y20140576) （编号:Y20140576）
国家自然科学基金(编号:81272987) （编号:81272987）
