本文選題：胚胎植入　切入點(diǎn)：上海交通大學(xué)　出處：《上海交通大學(xué)學(xué)報(bào)(醫(yī)學(xué)版)》2017年03期

【摘要】：正2017年3月8日,在上海交通大學(xué)醫(yī)學(xué)院附屬國際和平婦幼保健院1例經(jīng)胚胎植入前遺傳學(xué)診斷(PGD)技術(shù)阻斷家系遺傳病的嬰兒順利降生。產(chǎn)婦曾育有2子,但均不幸夭折,被診斷為噬血細(xì)胞綜合征。根據(jù)基因檢測、家系共分離分析等關(guān)鍵步驟的檢測結(jié)果,黃荷鳳教授團(tuán)隊(duì)認(rèn)為可以采用PGD技術(shù)實(shí)現(xiàn)該家系的遺傳病阻斷。針對該家系和致病基因的情況,團(tuán)隊(duì)為產(chǎn)婦建立了基于一代測序的胚胎植入前診斷體系。為了解決等位基因丟失(allele dropout)問
[Abstract]:March 8, 2017, in Shanghai Jiaotong University School of Medicine affiliated International Peace Maternity and Child Health Hospital of 1 patients with preimplantation genetic diagnosis (PGD) technique to block family genetic disease in infants born smoothly. Mothers had fathered 2 sons, but unfortunately died, was diagnosed with hemophagocytic syndrome. According to genetic testing, families were separated and detected the key step analysis, Professor Huang Hefeng believes the team can achieve the family of genetic diseases by using PGD technology. Aiming at the blocking pedigree and virulence genes, to establish a team of maternal generation sequencing embryos into the diagnosis system based on. In order to solve the problem of allelic loss (allele dropout).

【分類號】：R714.8

【相似文獻(xiàn)】

相關(guān)期刊論文 前10條

1 龐戰(zhàn)軍;巨噬細(xì)胞集落刺激因子在胚胎植入過程中的作用[J];國外醫(yī)學(xué).婦產(chǎn)科學(xué)分冊;2002年01期

2 王青欣;高秀霞;楊曉葵;王樹玉;;胚胎植入及其影響因素研究進(jìn)展[J];中國優(yōu)生與遺傳雜志;2011年07期

3 高云;第2天和第5天胚胎植入的比較[J];中華男科學(xué);2002年03期

4 梁營秋;高天e，

本文編號：1722702