5个中国X-连锁鱼鳞病家系的STS基因分析  

Steroid Sulfatase Gene Analysis of Five Chinese Families with X-linked Ichthyosis

作　　者：丁文媛 韩春雨 吕新翔[1] 李欣[1] 李娜[1] 黄艳平[1] 孙志强[1] 于博 艾丽娅 韩建文[1] Ding Wenyuan;Han Chunyu;LüXinxiang;Li Xin;Li Na;Huang Yanping;Sun Zhiqiang;Yu Bo;Ai Liya;Han Jianwen(Affiliated Hospital of Inner Mongolia Medical University,Hohhot 010050,Inner Mongolia,China)

机构地区：[1]内蒙古医科大学附属医院,内蒙古自治区呼和浩特010050

出　　处：《中国中西医结合皮肤性病学杂志》2025年第1期13-20,共8页Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine

基　　金：内蒙古科技计划项目(编号:2019GG082);国家自然科学基金(编号:82260619);内蒙古自治区自然科学基金(编号:2022MS08005);内蒙古医科大学银屑病基础及临床研究创新团队(编号:YKD2022TD030)。

摘　　要：目的检测5个中国X-连锁鱼鳞病(XLI)家系类固醇硫酸酯酶(STS)基因及其侧翼序列突变情况。方法收集5个家系先证者临床资料,并抽取5例先证者及其亲属和与上述5个家系无关的健康男女对照者(男性1例和女性1例)外周血,提取外周血DNA,通过聚合酶链反应(PCR)扩增实验、全基因外显子测序检测5例先证者STS及其侧翼序列基因缺失情况,用逆转录定量聚合酶链反应(RT-qPCR)实验验证5例先证者的STS基因是否发生拷贝数变异(CNV)。结果家系1先证者STS基因完全缺失,家系2先证者STS基因及假尿苷5′-磷酸酶(PUDP-P1)缺失,家系1、3、4和5 STS基因半合子缺失,家系1先证者的母亲及家系5先证者的母亲STS基因杂合缺失,家系1先证者父亲及家系5先证者父亲及健康男女对照者未发现这种缺失。结论STS基因及侧翼序列PUDP-P1缺失是导致XLI患者临床表型的原因。Objective In order to detect mutations in the steroid sulfatase(STS)gene and its flanking sequences in five Chinese families with X-linked ichthyosis(XLI).Methods Clinical data of probands from five families were collected.Peripheral blood samples were drawn from the probands of five families,their relatives,and healthy controls(one male and one female unrelated to the above five families).Peripheral blood DNA was extracted.Gene deletions of STS and its flanking sequences in five probands were detected by polymerase chain reaction(RCR)amplification and whole-gene exon sequencing.Reverse transcription quantitative polymerase chain reaction(RT-qPCR)was used to verify whether copy number variation(CNV)occurred in the STS gene of five probands.Results The STS gene of the proband in family 1 was completely deleted.The STS gene and pseudouridine 5′-phosphatase of the proband in family 2 were deleted.The STS genes of families 1,3,4,and 5 showed hemizygous deletions.The STS genes of the mothers of the probands in family 1 and family 5 showed heterozygous deletions.No such deletions were found in the fathers of the probands in family 1 and family 5 and in normal healthy controls.Conclusion Deletion of the STS gene and its flanking sequence PUDP-P1 is the cause of the clinical phenotype of XLI patients.

关 键 词：X-连锁鱼鳞病 类固醇硫酸酯酶 侧翼序列 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]