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대한생식의학회지 제29권 제4호 2010년
Y 염색체 미세결실과 정자형성장애의 연관성에 대한 연구
삼성제일병원 생식생물학 및 불임연구실,성균관대학교 의과대학 산부인과학교실,비뇨기과학교실
이형송, 최혜원,박용석,궁미경,강인수,윤종민,이유식,서주태,전진현
Relationship between Microdeletions on the Y Chromosome and Defect of Spermatogenesis
Lee HS
Laboratory of Reproductive Biology & Infertility, Department of Obstetrics and Gynecology, Department of Urology, Samsung Cheil Hospital and Womens Healthcare Center Sungkyunkwan University School
Objectives: To estimate the frequency of Y chromosome microdeletions in the Korean population of infertile men and to evaluate the relationship between microdeletion on the Y chromosome and clinical phenotypes of infertile men with idiopathic azoospermia and oligozoospermia. Materials and Methods: Genomic DNA was extracted from blood samples collected from 330 infertile men attending the Infertility Clinic at Samsung Cheil Hospital, Korea. Six sequence tagged sites (STSs) spanning the azoospermia factor (AZF) regions of the Y chromosome were amplified by polymerase chain reactions (PCRs). Results: Microdeletions on Y chromosome were detected in 35 (10.6%) of the 330 infertile men. Most of the microdeletions (91.4%) involved AZFb or AZFc. The high incidence of microdeletions were found in AZFc region (57.1%), but the low in AZFa (8.6%) and AZFb (5.7%). Larger microdeletions involving two or three AZF regions were detected in 28.6% of cases. All patients (6 patients) with deletion of AZFa region showed no germ cell phenotypes, Sertoli cell only syndrome or Leydig cell hyperplasia in histopathologic examinations. Conclusion: Microdeletions on the Y chromosome, especially, at AZFc/DAZ regions may be the major cause of azoospermia and severe oligozoospermia. We suggest that idiopathic infertile men have genetic counselling and microdeletion analysis on the Y chromosome before IVF-ET and ART program.
키워드 : Y chromosome, Microdeletion, Azoospermia factor (AZF), Genetic counselling
교신저자 : hslee99@samsung.co.kr
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