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

• 발행기관: 대한의학유전학회
• 저자명: Eun Hee Cho Jin woo Kim Young Mi Kim Hyun Mee Ryu So Yeon Park
• 간행물 정보: 『대한의학유전학회지』제3권 제1호, 21~24쪽, 전체 4쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 1999.12.30

영문 초록

To study the X chromosome 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.

목차

INTRODUCTION

MATERIALS AND METHODS

RESULTS

DISCUSSION

REFERENCES

키워드

Humara gene Turna syndrome mosaicism archived cytogenetic slide heterozygosity