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논문 기본 정보

자료유형
학술저널
저자정보
Chang, Li-Jung (Department of Obstetrics and Gynecology, National Taiwan University Hospital and College of Medicine) Chen, Shee-Uan (Department of Obstetrics and Gynecology, National Taiwan University Hospital and College of Medicine) Tsai, Yi-Yi (Department of Obstetrics and Gynecology, National Taiwan University Hospital and College of Medicine) Hung, Chia-Cheng (Department of Medical Genetics, National Taiwan University Hospital and College of Medicine) Fang, Mei-Ya (Department of Medical Genetics, National Taiwan University Hospital and College of Medicine) Su, Yi-Ning (Department of Obstetrics and Gynecology, National Taiwan University Hospital and College of Medicine) Yang, Yu-Shih (Department of Obstetrics and Gynecology, National Taiwan University Hospital and College of Medicine)
저널정보
대한생식의학회 Clinical and experimental reproductive medicine : CERM Clinical and experimental reproductive medicine : CERM 제38권 제3호
발행연도
2011.1
수록면
126 - 134 (9page)

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Preimplantation genetic diagnosis (PGD) is gradually widely used in prevention of gene diseases and chromosomal abnormalities. Much improvement has been achieved in biopsy technique and molecular diagnosis. Blastocyst biopsy can increase diagnostic accuracy and reduce allele dropout. It is cost-effective and currently plays an important role. Whole genome amplification permits subsequent individual detection of multiple gene loci and screening all 23 pairs of chromosomes. For PGD of chromosomal translocation, fluorescence $in-situ$ hybridization (FISH) is traditionally used, but with technical difficulty. Array comparative genomic hybridization (CGH) can detect translocation and 23 pairs of chromosomes that may replace FISH. Single nucleotide polymorphisms array with haplotyping can further distinguish between normal chromosomes and balanced translocation. PGD may shorten time to conceive and reduce miscarriage for patients with chromosomal translocation. PGD has a potential value for mitochondrial diseases. Preimplantation genetic haplotyping has been applied for unknown mutation sites of single gene disease. Preimplantation genetic screening (PGS) using limited FISH probes in the cleavage-stage embryo did not increase live birth rates for patients with advanced maternal age, unexplained recurrent abortions, and repeated implantation failure. Polar body and blastocyst biopsy may circumvent the problem of mosaicism. PGS using blastocyst biopsy and array CGH is encouraging and merit further studies. Cryopreservation of biopsied blastocysts instead of fresh transfer permits sufficient time for transportation and genetic analysis. Cryopreservation of embryos may avoid ovarian hyperstimulation syndrome and possible suboptimal endometrium.
#Array Comparative Genomic Hybridization #Preimplantation Genetic Diagnosis #Preimplantation Genetic Screening #Single Nucleotide Polymorphisms Array #Vitrification #Whole Genome Amplification #Human

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참고문헌 (59)

참고문헌 신청
Handyside AH / 1990 / Pregnancies from biopsied human preimplantation embryos sexed by Yspecific DNA amplification / Nature 344:768~770 google schola Geraedts JP / 2009 / Preimplantation genetic diagnosis / Clin Genet 76:315~325 google schola Simpson JL / 2010 / Preimplantation genetic diagnosis at 20 years / Prenat Diagn 30:682~695 google schola Chen YL / 2011 / Successful application of the strategy of blastocyst biopsy, vitrification, whole genome amplification, and thawed embryo transfer for preimplantation genetic diagnosis of neurofibromatosis type 1 / Taiwan J Obstet Gynecol 50:74~78 google schola Chen SU / 2008 / PGD of beta-thalassaemia and HLA haplotypes using OmniPlex whole genome amplification / Reprod Biomed Online 17:699~705 google schola

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