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한국 남성 불임환자에서 Y 염색체상의 AZF Gene에 대한 분석 및 DAZ Gene의 발현 양상
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  • 한국 남성 불임환자에서 Y 염색체상의 AZF Gene에 대한 분석 및 DAZ Gene의 발현 양상
  • Analysis of the Azoospermia Factor (AZF) Gene on Y Chromosome and Expression Pattern of DAZ Gene in Korean Infertile Men
저자명
이호준,이형송,송견지,변혜경,서주태,김종현,이유식,Lee. Ho-Joon,Lee. Hyoung-Song,Song. Gyun-Jee,Byun. Hye-Kyung,Seo. Ju-Tae,Kim. Jong-Hyun,Lee. You-Sik
간행물명
大韓不妊學會雜誌
권/호정보
1997년|24권 1호|pp.57-65 (9 pages)
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대한생식의학회
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이 논문은 한국과학기술정보연구원과 논문 연계를 통해 무료로 제공되는 원문입니다.
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기타언어초록

Cytogenetic observations of loss of the distal portion of the Y chromosome long arm were found to be associated with disrupted spermatogenesis. The existence of a gene involved in the regulation of spermatogenesis, the azoospermia factor (AZF), was postulated. In this study, we screened the AZF region including DAZ and DAZH genes and observed the expression pattern of DAZ and DAZH transcript in infertile men with azoospermia and oligospermia by using a sequence-tagged site (STS)-based PCR method. PCR primers were synthesized for 11 STSs that span Yq interval 6, SRY, DAZ, and DAZH, functional DAZ homologue on chromosome 3. Microdeletions were detected in 4/32 (12.5%) azoospermic men and 1/11 (9%) severe oligospermic men. Only 2 of 5 patients had microdeletions of Yq that contained the DAZ gene, whereas the other 3 patients had deletions extending from intervals 5L-6F proximal to the DAZ gene on Yq. Testis biopsies of the azoospermic patients revealed a variety from Sertoli cell-only syndrome to testicular maturation arrest. Of 4 men with clinical data available, average testis size was R: 13.8 cc, L: 13.8 cc, serum T was $4.0{pm}1.25$ ng/ml, LH was $3.63{pm}1.90$ mIU/ml, and FSH was $8.85{pm}5.13$ mIU/ml. These values did not differ significantly from the remainder of the patients tested. We could not observed the DAZ transcript in 2 patients, who have no mature spermatozoa. In 11.6% of patients microdeletions of the AZF could be detected. These deletions in the AZF region seem to be involved causing spermatogenic failure. But the frequency of microdeletions proximal to DAZ suggests that DAZ is not the only gene associated with spermatogenic failure.