两X-性连遗传鱼鳞病家系类固醇硫酸酯酶基因研究

摘要/Abstract

摘要： 目的研究X性连锁遗传鱼鳞病(XLI)家系基因突变,探讨基因突变与临床表现的关系,为进一步开展基因诊断和基因治疗奠定基础。方法抽取不同地区两个家系中患者、正常人及与这些家系无关的50例正常人的外周血,提取外周血基因组DNA。应用PCR方法扩增外周血基因组DNA类固醇硫酸酯酶(STS)基因的第1、2和10外显子。结果两个家系中的患者STS基因均部分缺失,既仅有第1外显子,而无其他外显子。家系中正常人和与该家系无关的50例正常人未发现这种缺失。结论该两XLI家系存在STS基因部分缺失,该缺失引发出XLI特有的皮肤病变。

Abstract: Objective To investigate the gene mutation in two pedigrees with X-linked ichthyosis (XLI) and explore the relationship between the mutation and clinical manifestations. Methods Genomic DNA of the affected and normal members of the pedigrees and 50 unrelated normal subjects from different regions was extracted with a whole blood genomic DNA extraction kit for use of the template for PCR amplification of exon 1, exon 2 and exon 10 of the steroid sulfatase (STS) gene. Results The STS gene was partially deleted in the affected members in the pedigrees with XLI, leaving only exon1 but not the other exons. The normal member of the pedigree and 50 unrelated normal subjects had no such deletion. Conclusion Partial deletion of the STS gene exists in the two pedigrees with XLI, which is responsible for pathological skin changes characteristic of XLI.

中图分类号:

Q78
R758.52

刘安, 肖生祥, 谭升顺, 焦婷, 刘艳, 李晓莉, 周少娜. 两X-性连遗传鱼鳞病家系类固醇硫酸酯酶基因研究[J]. 南方医科大学学报, 2005, 25(08): 1023-1025.

LIU An, XIAO Sheng-xiang, TAN Sheng-shun, JIAO Ting, LIU Yan, LI Xiao-li, ZHOU Shao-na. Investigation of steroid sulfatase gene in two pedigrees with X-linked ichthyosis[J]. Journal of Southern Medical University, 2005, 25(08): 1023-1025.

参考文献

[1] 赵辨.临床皮肤病学[M].南京:江苏科学技术出版社,2002.1062-4.
[2] Cuevas SA, Jimenez AL, Gonzalez LM. Somatic and germinal mosaicism for the steroid sulfatase gene deletion in a steroid sulfatase deficiency carrier[J]. J Invest Dermatol, 2002, 119(4): 972-5.
[3] Gonzalez LM, Riviera MR, Kofman SH. Novel missense mutation(Arg432Cys) in a patient with steroid sulphatase-deficiency[J]. Clin Endocrinol (Oxf), 2003, 59(2): 263-4.
[4] Jimenez AL, Valdes Mdel R, Rivera MR. Deletion pattern of the STS gene in X-linked ichthyosis in a Mexican population[J]. Mol Med, 2001, 7(12): 845-9.
[5] Lesca G, Sinilnikova OM, Theuil G, et al. Xp22.3 microdeletion including VCX-A and VCX-B1 genes in an X-linked ichthyosis family: no difference in deletion size for patients with and without mental retardation[J]. Clin Genetics, 2005, 67(4): 367.
[6] 徐哲,杨勇,季素珍.伴房间隔缺损的X-连锁鱼鳞病1例[J].临床皮肤科杂志,2004,33(3):160-1.Xu Z,Yang Y,Ji SZ.A case of X-linked ichthyosis with interatrial septal defect[J].J Clin Dermatol,2004,33(3):160-1.
[7] 齐之丽.X连锁隐性遗传寻常型鱼鳞病一家系报告[J].潍坊医学院学报,2002,24(3):206Qi ZL.A report of a pedigree with X-ichthyosis[J].J Weifang Med Coll,2002,24(3):206.
[8] 黎曼依,张卫红,司宝敏.遗传性鱼鳞病五代7人家系分析[J].中国优生与遗传杂志,1999,7(5):61.Li MN, Zhang WH, Si BM. Investigation of a hereditary ichthyosis pedigree of seven people in five dynasties[J]. Chin J Birth Health Heredity, 1999, 7(5): 61.
[9] Valdes M, Kofman SH, Vaca AL, et al. Mutation report: a novel partial deletion of exons 2-10 of the STS gene in recessive X-linked ichthyosis[J]. J Invest Dermatol, 2000, 114(3): 591-3.
[10] Hernandez A, Gonzalez R, De Unamuno P. X-linked ichthyosis: an update[J]. Br J Demerol, 1999, 141(4): 617-27.
[11] Shapiro LJ, Yen P, Pomerantz D, et al. Molecular studies of deletion at the human steroid sulfatase locus[J]. Proc Natl Acad Sci USA,1989, 86: 8477-81.
[12] Margarita VF, Susana HK, Aha LJ, et al. A novel partial deletion of exons 2-10 of the STS gene in recessive X-link ichthyosis[J]. J Invest Dermatol, 2000, 114(3): 591-3.

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