생명과학회지 (Journal of Life Science)

한국생명과학회 (Korean Society of Life Science)
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47,XXY와 46,XY 핵형을 가진 한국인 불임남성의 Y 염색체의 미세결실에 대한 비교 분석

Comparative analysis of Y chromosomal microdeletions in Korean infertile men of 47,XXY and 46,XY karyotypes

  • 허재원 (부산대학교 자연과학대학) ;
  • 김우영 (부산대학교 자연과학대학) ;
  • 김대수 (부산대학교 자연과학대학) ;
  • 하홍석 (부산대학교 자연과학대학) ;
  • 이자랑 (부산대학교 자연과학대학) ;
  • 최욱환 (부산대학교 의과대학 산부인과 교실) ;
  • 남기만 (부산대학교 의과대학 산부인과 교실) ;
  • 배화정 (부산대학교 의과대학 산부인과 교실) ;
  • 최진 (카나자와대학 의과대학비뇨기과) ;
  • 김희수 (부산대학교 자연과학대학)
  • Huh, Jae-Won (Division of Biological Sciences, Collese of Natural Sciences, Pusann National University) ;
  • Kim, Woo-Young (Division of Biological Sciences, Collese of Natural Sciences, Pusann National University) ;
  • Kim, Dae-Soo (Division of Biological Sciences, Collese of Natural Sciences, Pusann National University) ;
  • Ha, Hong-Seok (Division of Biological Sciences, Collese of Natural Sciences, Pusann National University) ;
  • Lee, Ja-Rang (Division of Biological Sciences, Collese of Natural Sciences, Pusann National University) ;
  • Choi, Ook-Hwan (Department of Obstetrics & Gynecology, College of Medicine, Pusan National University) ;
  • Nam, Ki-Man (Department of Obstetrics & Gynecology, College of Medicine, Pusan National University) ;
  • Bae, Hwa-Jung (Department of Obstetrics & Gynecology, College of Medicine, Pusan National University) ;
  • Choi, Jin (Department of Urology, School of Medicine, Kanazawa University) ;
  • Kim, Heui-Soo (Division of Biological Sciences, Collese of Natural Sciences, Pusann National University)
  • 발행 : 2007.06.25
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초록

무정자증 환자의 경우, 정확히 알려지지 않은 유전적인 요인들이 남성불임과 연관되어 있다. 그들 중 클라인펠트 증후군(KS)과 정상 핵형의 남성에게서 발견되는 Y염색체상의 미세결실 증상(YMNK)은 남성 불임의 가장 빈번한 원인이라고 할 수 있다. 본 연구는 한국인 집단에서 남성불임으로 고통 받고 있는 YMNK (66 개체)와 KS(30 개체) 환자들을 비교 분석 하였다. Y염색체 상의 AZFa,b,c 영역의 미세결실을 분석하기 위해 19개의 STS 프라이머를 이용해 PCR분석을 하였다. 실험 결과 YMNK의 34.9%와 KS의 73.4%가 미세결실을 포함하고 있었다. 이점으로 미루어보아 YMNK환자보다 KS환자의 경우가 Y염색체의 불안정성이 더욱 높은 것으로 사료된다. 결론적으로 미세결실을 포함하는 제놈의 불안정성은 정상적인 정자형성 과정을 방해하여 남성불임을 초래할 수 있을 것이다.

In the azoospermic patients, there are many of undiagnosed factors related to genetic bases. Among them, Klinefelter's syndrome (47,XXY; KS) and Y-chromosomal microdeletion with normal karyotype(46,XY; YMNK) are the most frequent causes of male infertility. This research focused on the comparative analysis of YMNK (n = 66) and K5 (n = 30) patients suffered from male infertility in Korean population. We used the polymerase chain reaction (PCR) approach including 19 pairs of sequence-tagged site (STS) primers for detecting the Y-chromosomal microdeletion on AZFa, b, c regions, indicating that Y chromosomal microdeletions were almost evenly occurred in AZF all regions in Korean population. Comparative analysis indicated that 34.9% YMNK and 73.4% KS patients harbored the microdeleted Y-chromosome. It seems to be high instability of Y-chromosome in KS patients than that of YMNK infertility patients. Taken together, genome instability containing microdeletion could bring male infertility with the disturbance of normal spermatogenesis.

키워드

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