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대한생식의학회지 제24권 제1호 2010년
단일 태아세포에서의 PEP-PCR을 이용한 성의 결정과 Dystrophin 유전자 분석
삼성 제일병원 유전학연구실;삼성 제일병원 유전학연구실;삼성 제일병원 유전학연구실;삼성 제일병원 유전학연구실;삼성 제일병원 산부인과;삼성 제일병원 산부인과;
최수경;김진우;조은희;박소연;류현미;강인수;,
Analyses of Dystrophin Gene and Sex Determination using PEP-PCR in Single Fetal Cells
Choi, Soo-Kyung;Kim, Jin-Woo;Cho, Eun-Hee;Park, So-Yeon;Ryu, Hyun-Mee;Kang, Inn-Soo;
Genetic Research Lab., Samsung Cheil Hospital & Women's Healthcare Center;Genetic Research Lab., Samsung Cheil Hospital & Women's Healthcare Center;Genetic Research Lab., Samsung Cheil Hospital & Women's Healthcare Center;Genetic Research Lab., Samsung Cheil Hospital & Women's Healthcare Center;Dep. of Obstetrics and Gynecology, Samsung Cheil Hospital & Women's Healthcare Center;Dep. of Obstetrics and Gynecology, Samsung Cheil Hospital & Women's Healthcare Center;
Recently, through the development of the primer extension preamplification(PEP) method which amplifies the whole genome, simultaneous multiple DNA analysis has become possible. Whole genome from each single cell can be amplified using 15 base oligonucleotide random primer. The greatest advantage of PEP-PCR is the ability to investigate several loci simultaneously and confirm results by analysing multiple aliquots for each locus. This technique led to the development of preimplantation genetic disease diagnosis using blastomere from early embryo, sperm, polar body and oocyte. In this study, we applied PEP-PCR in 20 cases of single amniocyte and 20 cases of single chorionic villus cell for the clinical application of the prenatal and preimplantational genetic diagnosis. We analysed 7 gene loci simultaneously which are 46, 47 exons related to dystrophin gene, two VNTR (variable number tandem repeat) markers using 5'dysIII, 3'CA related to dystrophin gene and DYZ1, DYZ3, DYS14 regions on chromosome Y. In all the tests, 97.5% of PEP-PCR amplifications with single cells were successful. We obtained 38/40 (95%) accuracy in gender determination through chromosome analysis comparison. Therefore, these results have significant implications for a sperm or oocyte analysis and prenatal or preimplantational genetic diagnosis.
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