J Genet Med.  1999 Dec;3(1):21-24.

Molecular Study of X-Chromosome Mosaicism in Turner Syndrome Patients using DNAs Extracted from Archives Cytogenetic Slides

  • 1Laboratory of Medical Genetics, Samsung Cheil Hospital & Women's Healthcare Center, Seoul, Korea. genelab@unitel.co.kr
  • 2Obstetrics and Gynecology, Samsung Cheil Hospital & Women's Healthcare Center, Sungkyunkwan University School of Medicine, Seoul, Korea.


To study the X chromesome masaicism in the cytogenetically pure 45,X Turner syndrome patients, we applied PCR technique using DNAs extracted from archived cytogenetic slides. We amplified the DNAs using nested primers targeted to a highly polymorphic short tandem repeat(STR) of the human androgen receptor gene(HUMARA) for the detection of X chromosome mosaicism. This assay is a very sensitive and useful method which can be applied to the DNAs extracted from archived cytohenetic slides to detect X mosaicism. We have tested 50 normal Korean females to determine whether the HUMARA locus is highly polumorphic among Koreans. 85% of Korean population showed heterozygosity in the HUMARA locus. We analysed the 24 DNAs extracted from archived slides of patients and abortuses with Turner syndrome in cytogenetic analysis. We observed the heterozygosities of 50% from pure 45,X patients, 83% from the patients with mosaic Turner syndrome and 8.3% from the abortuses of pure 45,X. Using the PCR tecjhnique of the HUMARA locus in the archived cytogenetic slides, we detected X chtomosome mosaicsm which could not be detected in cytogenetic analysis.


Humara gene; Turna syndrome; Mosaicism; Archived cytogenetic slide; Heterozygosity
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