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대한생식의학회지 제31권 제2호 2010년
미세정자주입술로 임신이 된 남자태아의 Y 염색체 미세결실의 Vertical Transmission, de novo, 그리고 Expansion의 연구
포천중문의대 차병원 유전학연구실, 여성의학연구소 산부인과, 보건복지부 지정 생식의학 및 불임 유전체 연구센터
김현아, 이숙환, 조성원, 정혜진, 손수민, 강수진, 배성근, 김수희, 윤태기
A Vertical Transmission, de novo, and Expansion of Y chromosome Microdeletion in Male Fetuses Pregnant after Intracytoplasmic Sperm Injection
Huyn Ah Kim, Sook-Hwan Lee, Sung Won Cho, Hye Jin Jeong, Soo Min Son, Soo Jin Kang, Seong-Keun Bae, Soo-Hee Kim, Tae Ki Yoon
Human Genetics Laboratory of CHA Infertility Medical Center, Department of Obstetrics and Gynecology, CHA General Hospital, College of Medicine, Pochon CHA University, Genome Research Center for Reproductive Medicine and Infertility of Korea Ministry of Health and Welfare, Seoul, Korea
Objectives: Despite severe oligospermia, males with Y chromosome microdeletion can achieve conception through ICSI (Intracytoplasmic Sperm Injection). However, ICSI may not only result in the transmission of microdeletions but also the expansion of deletion to the offspring. The purpose of this study was to screen vertical transmission, expansion of microdeletions and de novo deletion in male fetuses conceived by ICSI. Materials and Methods: A total of 32 ICSI treated patients with their 33 (a case of twin) male fetuses conceived by ICSI were used to make this study group. Sequence-tagged sites (STSs)-based PCR analyses were performed on genomic DNA isolated from peripheral blood of fathers and from the amniocytes of male fetuses. Ten primer pairs namely, sY134, sY138, MK5, sY152, sY147, sY254, sY255, SPGY1, sY269 and sY158 were used. The samples with deletions were verified at least three times. Results: We detected a frequency of 12.5% (4 of the 32 patients) of microdeletions in ICSI patients. In 4 patients with detected deletions, two patients have proven deletions on single STS marker and their male fetuses have the identical deletion in this region. Another two patients have two and three deletions, but their male fetuses have more than 3 deletions which include deletions to their father's. Meanwhile, seven male fetuses, whose fathers were analyzed to have all 10 STS markers present, have deletions present in at least one or more of the markers. Conclusions: Although the majority of deletions on the Y chromosome are believed to arise de novo, in some cases a deletion has been transmitted from the fertile father to the infertile patient. In other cases the deletion was transmitted through ICSI treatment, it is likely that one sperm cell is injected through the oocyte's cytoplasm and fertilization can be obtained from spermatozoa. Our tests for deletion were determined by PCR and our results show that the ICSI treatment may lead to vertical transmission, expansion and de novo Y chromosome microdeletions in male fetuses. Because the sample group was relatively small, one should be cautious in analyzing these data. However, it is important to counsel infertile couples contemplating ICSI if the male carries Y chromosomal microdeletions.
키워드 : Y microdeletion, ICSI, Vertical transmission, de novo, Expansion
교신저자 : dnalee@nuri.net
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