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Molecular Study of X-Chromosome Mosaicism in Turner Syndrome Patients using DNAs Extracted from Archives Cytogenetic Slides
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  • Molecular Study of X-Chromosome Mosaicism in Turner Syndrome Patients using DNAs Extracted from Archives Cytogenetic Slides
  • Molecular Study of X-Chromosome Mosaicism in Turner Syndrome Patients using DNAs Extracted from Archives Cytogenetic Slides
저자명
Cho. Eun-Hee,Kim. Jin-Woo,Kim. Young-Mi,Ryu. Hyun-Mee,Park. So-Yeon
간행물명
Journal of genetic medicine
권/호정보
1999년|3권 1호|pp.21-24 (4 pages)
발행정보
대한의학유전학회
파일정보
정기간행물|ENG|
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이 논문은 한국과학기술정보연구원과 논문 연계를 통해 무료로 제공되는 원문입니다.
서지반출

기타언어초록

To study the X chromesome mosaicism 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 cytogenetic slides to detect X mosaicism. We have tested 50 normal Korean females to determine whether the HUMARA locus is highly polymorphic 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 technique of the HUMARA locus in the archived cytogenetic slides, we detected X chromosome mosaicism which could not be detected in cytogenetic analysis.