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Noninvasive Prenatal Diagnosis of Fetal Sex by Single-cell PEP-PCR Method

Journal of Huazhong University of Science and Technology(Medical Sciences) 2004年第1期24卷 66-67,78页

作者：王陶然陈汉平马庭元 Department of Gynecology and Obstetrics

A new method for noninvasive prenatal diagnosis of fetal sex was developed by using single cell PEP PCR techniques. Micromamipulation techniques were used to obtain single fetal cells from 273 maternal blood samples. The genome of single cells was preamplified by PEP and SRY genes were analyzed by PCR method. The SRY genes of 149 samples were detected by the new method among 153 samples carrying male fetus, while 119 out of 120 samples carrying female fetus were proved negative for SRY genes. The sensitivity and specificity of the new method were 97.39 % and 99.17 % respectively and the correct rate was 98.17 %. The new method has the advantage of high sensitivity and specificity in noninvasive prenatal diagnosis of fetal sex and provides the basis of other researches such as sex linked inherited diseases.

关键词： primer extension preamplification prenatal diagnosis, noninvasive sex determination

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Review:Whole genome amplification in preimplantation genetic diagnosis

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Journal of Zhejiang University-Science B(Biomedicine & Biotechnology) 2011年第1期12卷 1-11页

作者： Ying-ming ZHENG Ning WANG Lei LI Fan JIN Department of Reproductive Endocrinology Women's Hospital School of Medicine Zhejiang University Hangzhou 310006 China

Preimplantation genetic diagnosis (PGD) refers to a procedure for genetically analyzing embryos prior to implantation,improving the chance of conception for patients at high risk of transmitting specific inherited *** method has been widely used for a large number of genetic disorders since the first successful application in the early *** chain reaction (PCR) and fluorescent in situ hybridization (FISH) are the two main methods in PGD,but there are some inevitable shortcomings limiting the scope of genetic ***,different whole genome amplification (WGA) techniques have been developed to overcome these *** DNA can be amplified and multiple tasks which need abundant DNA can be ***,WGA products can be analyzed as a template for multi-loci and multi-gene during the subsequent DNA *** this review,we will focus on the currently available WGA techniques and their applications,as well as the new technical trends from WGA products.

关键词： Whole genome amplification Multiple displacement amplification primer extension preamplification Degenerate oligonucleotide primed-polymerase chain reaction Preimplantation genetic diagnosis

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