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한국인 남성 불임환자에서 Y염색체내 미세결실의 분자유전학적 분석
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  • 한국인 남성 불임환자에서 Y염색체내 미세결실의 분자유전학적 분석
  • Molecular Genetic Analysis of Microdeletions in Y Chromosome from Korean Male Infertility Patients
저자명
윤현수,이정현,서주태,김해정,이동률,전종식,조정현,김문규,이무상,노성일,Yoon. Hyun-Soo,Lee. Jeong-Hen,Seo. Ju-Tae,Kim. Hae-Jung,Lee. Dong-Ryul,Jeon. Jong-Sik,Ch
간행물명
大韓不妊學會雜誌
권/호정보
1996년|23권 3호|pp.367-377 (11 pages)
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대한생식의학회
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이 논문은 한국과학기술정보연구원과 논문 연계를 통해 무료로 제공되는 원문입니다.
서지반출

기타언어초록

Genes on the long arm of Y chromosome, particularly interval 6, are believed to playa critical role in human spermatogenesis. The objective of this study was to validate a sequenced-tagged site(STS)-mapping strategy for the detection of Yq microdeletion and to use this method to determine the proportion of men with Yq microdeletions in idiopathic, obstructive, nonobstructive azoospermia, severe OATS and in normal males. We analyzed three STS markers mapped to interval 6 within long arm of the Y chromosome from 106 nonobstructive, 30 obstructive azoospermia, 15 severe OATS patients, and normal 42 males in Korean men. By PCR, we tested leukocyte DNA, for the presences of STS markers(DAZ, sY129 and sY134) and SRY gene as internal control. And PCR results were confirmed by Southern hybridization, and were investigated by SSCP analysis for DAZ gene mutation. None of 42 normal males and 30 obstructive azoospermia had microdeletions, Of the 15 severe OATS typed with DAZ, sY129 and sY134, 3(20.0%) patients failed to amplify 1 or more STS markers, and of the 106 nonobstructive azoospermia typed with DAZ, sY129 and sY134, 12(11.3%) patients failed to amplify 1 or more STS markers. From these results, high prevalence(12.4%) of Yq deletion(DAZ, sY129, sY134) in men with nonobstructive idopathic azoospermia and severe OATS were observed in Korean infertility patients. To avoid the infertile offspring by assisted reproductive technique using ICSI or ROSI, genetic diagnosis will be needed in IVF-ET program.