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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 148 - 155 (8page)
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초록· 키워드
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Background: Chromosomal abnormalities are confirmed as one of the frequent causes of male infertility. The microdeletion of the azoospermia factor (AZF) region in the Y chromosome was discovered as another frequent genetic cause associated with male infertility. The aim of this study was to evaluate the frequency and type of chromosomal abnormalities and Y chromosome microdeletions in Korean infertile men. Methods: A total of 846 infertile men with azoospermia and severe oligozoospermia were included for genetic screening. Cytogenetic analyses using G-banding and screening for Y chromosome microdeletions by multiplex PCR for AZF genes were performed. Results: Chromosomal abnormalities were detected in 112 infertile men (13.2%). Of these, Klinefelter’s syndrome was the most common (55.4%, 62/112), followed by balanced translocation including translocation between sex chromosome and autosome (14.3%), Yq deletion (13.4%), X/XY mosaicism with Yq deletion (12.5%), and XX male (4.5%). The overall prevalence of Y chromosome microdeletions was 9.2% (78/846). Most microdeletions were in the AZFc region (51.3%) with a low incidence in AZFa (7.7 %) and AZFb (6.4 %). Combined deletions involving the AZFbc and AZFabc regions were detected in 26.9 % and 7.7 % of men, respectively. Among the infertile men with Y chromosome microdeletions, the incidence of chromosomal abnormality was 25.6% (20/78). Conclusions: There was a high incidence (20.1%) of chromosomal abnormalities and Y chromosome microdeletions in Korean infertile men. These findings strongly suggest that genetic screening for chromosomal abnormalities and Y chromosome microdeletions should be performed, and genetic counseling should be provided before starting assisted reproductive techniques.
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참고문헌 (40)
참고문헌 신청
De Kretser DM / 1997 / Male infertility / Lancet 349:787~790
Dohle GR / 2002 / Genetic risk factors in infertile men with severe oligozoospermia and azoospermia / Hum Reprod 17:13~16
Hamada A / 2011 / The role of contemporary andrology in unraveling the mystery of unexplained male infertility / Open Reprod Sci J 3:27~41
Foresta C / 2001 / Y chromosome microdeletions and alterations of spermatogenesis / Endocr Rev 22:226~239
Vineeth VS / 2011 / A journey on Y chromosomal genes and male infertility / Int J Hum Genet 11:203~215
Dohle GR / 2002 / Genetic risk factors in infertile men with severe oligozoospermia and azoospermia / Hum Reprod 17:13~16
Hamada A / 2011 / The role of contemporary andrology in unraveling the mystery of unexplained male infertility / Open Reprod Sci J 3:27~41
Foresta C / 2001 / Y chromosome microdeletions and alterations of spermatogenesis / Endocr Rev 22:226~239
Vineeth VS / 2011 / A journey on Y chromosomal genes and male infertility / Int J Hum Genet 11:203~215
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