[1]李刚△,孙莹璞#,金海霞,等.罗伯逊易位携带者胚胎植入前遗传学诊断*[J].郑州大学学报(医学版),2009,(01):85-86.
 LI Gang,SUN Yingpu,JIN Haixia,et al.Preimplantation genetic diagnosis for Robertsonian translocation carriers with fluorescence in situ hybridization[J].JOURNAL OF ZHENGZHOU UNIVERSITY(MEDICAL SCIENCES),2009,(01):85-86.
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罗伯逊易位携带者胚胎植入前遗传学诊断*()
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《郑州大学学报(医学版)》[ISSN:1671-6825/CN:41-1340/R]

卷:
期数:
2009年01期
页码:
85-86
栏目:
论著
出版日期:
2009-01-01

文章信息/Info

Title:
Preimplantation genetic diagnosis for Robertsonian translocation carriers with fluorescence in situ hybridization
作者:
李刚孙莹璞#金海霞辛志敏戴善军
郑州大学第一附属医院生殖医学中心郑州450052
Author(s):
LI GangSUN YingpuJIN HaixiaXIN ZhiminDAI Shanjun
Reproductive Medical Center,the First Affiliated Hospital,Zhengzhou University, Zhengzhou 450052
关键词:
罗伯逊易位植入前遗传学诊断荧光原位杂交
Keywords:
Robertsonian translocationpreimplantation genetic diagnosis fluorescence in situ hybridization
分类号:
R714.5
摘要:
了解罗伯逊易位携带者进行胚胎植入前遗传学诊断(PGD)的价值。方法:应用荧光原位杂交方法(FISH),采用位点特异探针(LSI)和端粒探针(Tel)对3例罗伯逊易位患者的卵裂球进行PGD分析,并选择正常或平衡胚胎移植入子宫。结果:共进行5个PGD周期,获卵145个,正常受精率81.1%,卵裂率92.5%,优质胚胎率88.9%。5个周期共移植11个胚胎,1例获得妊娠。获妊娠者孕20周后经羊水细胞核型分析,证实为正常/平衡,现已分娩健康婴儿。结论:PGD是罗伯逊易位携带者获得正常后代的有效途径。
Abstract:
To explore preimplantation genetic diagnosis(PGD) with fluorescence in situ hybridization(FISH) for Robertsonian translocation carriers.Methods:PGD was conducted for 3 Robertsonian translocation couples. Vysis LSI and Tel probes were used to detect the blastomeres which biopsied from the embryos of the patients. FISH analysis was performed to select normal or balanced karyotype embryos and then transferred them into uterus.Results: Totally,145 oocytes were retrieved in 5 PGD cycles. Normal fertilization rate was 81.1%. The cleavage rate and good quality embryo rate were 92.5% and 88.9% respectively; 11 normal/balanced embryos were transferred in 5 cycles and one clinical normal ongoing pregnancy was achieved. The diagnosis was confirmed by amniocyte karyotyping. It was retrieved as the first delivery of PGD in Henan province.Conclusion: preimplantation genetic diagnosis can be the effective way for Robertsonian translocation carriers to get normal offsprings.

参考文献/References:

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[4]李刚,孙莹璞,金海霞.植入前遗传学诊断中四种卵裂球固定方法的比较[J].生殖与避孕,2006,26(7):440
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[7]Berend SA,Herwitz J,McCaskill C,et al. Identification of uniparental disomy following prenatal detection of Robertsonian translocation and isochromosome[J].Am J Hum Genet,2000,66(6):1 787
[8]Scriven PN,Flinter FA, Braude PR,et al. Robertsonian translocationsreproductive risks and indications for preimplantation genetic diagnosis[J].Hum Reprod, 2001,16(11):2 267
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备注/Memo

备注/Memo:
*河南省卫生厅创新人才基金资助项目2001102 △男,1979年生,博士研究生,研究方向:生殖医学,Email:lgvigor@126.com #通讯作者,女,1961年生,教授,主任医师,研究方向:生殖医学,Email:syp2008@vip.sina.com
更新日期/Last Update: 2010-05-18