China Journal of Leprosy and Skin Diseases ›› 2021, Vol. 37 ›› Issue (8): 483-485.doi: 10.12144/zgmfskin202108483

• Original Articles • Previous Articles     Next Articles

Detection of mutation in STS gene in one pedigree with X-linked ichthyosis based on multiplex ligation-dependent probe amplification

DANG Yang1, TANG Zhuangli2, NIU Xinwu1, GENG Songmei1, LIU Yan1, WANG Xiaopeng1   

  1. 1 Hospital of Dermatology, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710004, China; 
    2 The Second Affiliated Hospital of Zhejiang University, Hangzhou 310009, China 
  • Online:2021-08-15 Published:2021-07-20
  • Contact: WANG Xiaopeng, E-mail: wangdctor@163.com; TANG Zhuangli, E-mail: tangzhuangli@zju.edu.cn

PDF (PC)

213

Like

Abstract: Objective: To detect the mutation in STS gene in one pedigree with X-linked ichthyosis. Methods: DNA was extracted from the peripheral blood of the proband, a 31-year-old male and his healthy parents. Neither of his parents had clinical manifestations of ichthyosis. The STS gene was detected by multiplex ligation-dependent probe amplification, and then, the gene mutations in STS gene was detected by polymerase chain reaction if STS had no deletion. Results: In the family, the proband had STS gene hemizygosity loss and the mother had STS gene heterozygosity loss. Only the proband showed clinical manifestations of ichthyosis. There was no mutation was found in STS gene in his father. Conclusion: STS gene deletion is the genetic factor of this patient with X-linked ichthyosis.

Key words: X-linked ichthyosis, STS gene, multiplex ligation-dependent probe amplification