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Birth of a healthy infant following preimplantation PKHD1 haplotyping for autosomal recessive polycystic kidney disease using multiple displacement amplification.应用多重置换扩增技术对常染色体隐性多囊肾病进行胚胎植入前 PKHD1 单体型分析，诞生健康婴儿。
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Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells.胚胎植入前遗传学单体型分析：127 个诊断周期显示，该方法是一种强大、高效的替代方法，可替代单细胞直接突变检测。
Reprod Biomed Online. 2010 Apr;20(4):470-6. doi: 10.1016/j.rbmo.2010.01.006. Epub 2010 Jan 11.
3
Preimplantation genetic diagnosis for alpha-thalassaemia in China.中国α地中海贫血的植入前基因诊断
J Assist Reprod Genet. 2009 Jul;26(7):399-403. doi: 10.1007/s10815-009-9336-4. Epub 2009 Oct 8.
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Singleton birth after preimplantation genetic diagnosis for Huntington disease using whole genome amplification.使用全基因组扩增技术对亨廷顿舞蹈病进行植入前基因诊断后的单胎分娩
Fertil Steril. 2009 Aug;92(2):828.e7-10. doi: 10.1016/j.fertnstert.2009.05.007. Epub 2009 Jun 9.
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Preimplantation genetic diagnosis for Duchenne muscular dystrophy by multiple displacement amplification.通过多重置换扩增进行杜氏肌营养不良症的植入前基因诊断。
Fertil Steril. 2009 Feb;91(2):359-64. doi: 10.1016/j.fertnstert.2007.11.044. Epub 2008 Mar 21.
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Whole-genome multiple displacement amplification from single cells.单细胞全基因组多重置换扩增
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Mutation and haplotype analysis for Duchenne muscular dystrophy by single cell multiple displacement amplification.利用单细胞多重置换扩增技术对杜氏肌营养不良症进行突变和单倍型分析。
Mol Hum Reprod. 2007 Jun;13(6):431-6. doi: 10.1093/molehr/gam020. Epub 2007 Apr 16.
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Preimplantation genetic diagnosis of Marfan syndrome using multiple displacement amplification.使用多重置换扩增技术对马凡综合征进行植入前基因诊断。
Fertil Steril. 2006 Oct;86(4):949-55. doi: 10.1016/j.fertnstert.2006.03.036.
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Successful preimplantation genetic diagnosis for alpha- and beta-thalassemia in China.中国成功开展α和β地中海贫血的植入前基因诊断
Prenat Diagn. 2006 Nov;26(11):1021-8. doi: 10.1002/pd.1549.
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Experience in preimplantation genetic diagnosis for exclusion of homozygous alpha degrees thalassemia.胚胎植入前基因诊断用于排除纯合子α地中海贫血的经验。
Prenat Diagn. 2006 Nov;26(11):1029-36. doi: 10.1002/pd.1550.

α-和β-双重地中海贫血的胚胎植入前遗传学诊断。

Preimplantation genetic diagnosis for α-and β-double thalassemia.

机构信息

Center for Reproductive Medicine and Department of Gynecology & Obstetrics, First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan Road II, Guangzhou, 510080, People's Republic of China.

出版信息

J Assist Reprod Genet. 2011 Sep;28(10):957-64. doi: 10.1007/s10815-011-9598-5. Epub 2011 Jun 11.

DOI:10.1007/s10815-011-9598-5
PMID:21667101
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3220442/
Abstract

PURPOSE

To evaluate the use of multiple displacement amplification (MDA) for preimplantation genetic diagnosis (PGD) of α- and β-double thalassemia.

METHOD

Whole genome of a single cell was directly amplified using MDA and its products were used as templates in fluorescent gap polymerase chain reaction (PCR) analysis of α-thalassemia and in PCR-reverse dot blot analysis, singleplex fluorescent PCR of β-28 and CD17 mutation and HumTH01 for β-thalassemia.

RESULTS

  1. MDA from single cell could produce enough DNA templates for the detection of both α and β-thalassemia; 2) The established MDA-PGD protocol for α- and β-double thalassemia was successfully applied in PGD of six embryos, among which, three were transferred, but no pregnancy ensued.

CONCLUSIONS

The use of MDA as a universal step allows for the simultaneous diagnosis of two or more hereditary defects.

摘要

目的

评估多重置换扩增（MDA）在α-和β-双重地中海贫血症的植入前遗传学诊断（PGD）中的应用。

方法

使用 MDA 直接扩增单细胞的全基因组，并用其产物作为荧光 gap 聚合酶链反应（PCR）分析α-地中海贫血和 PCR-反向点杂交分析、β-28 和 CD17 突变和β-地中海贫血的 HumTH01 的模板。

结果

1）单细胞的 MDA 可以产生足够的 DNA 模板，用于检测α和β-地中海贫血；2）成功地将建立的 MDA-PGD 方案应用于 6 个胚胎的 PGD 中，其中 3 个进行了转移，但没有妊娠。

结论

MDA 的使用作为一个通用步骤，可以同时诊断两种或更多种遗传性缺陷。