Application of single nucleotide polymorphism microarray in preimplantation genetic diagnosis of chromosomal translocation carrier.

doi:10.7504/fk2016020110

Abstract

Abstract:

Abstract: As one of the common reasons of infertility，chromosomal translocation is the popular indication of preimplantation genetic diagnosis （PGD）.Recently，single nucleotide polymorphism microarray has been applied to the PGD as a new technology.Compared with the traditional methods，the SNP microarray has more advantages.In this article，authors will review the principle of SNP microarray，the present situation of application of SNP-PGD,indication，advantages and disadvantages.The perspective of SNP-PGD will be discussed as well.

Key words: preimplantation genetic diagnosis, single nucleotide polymorphism microarray

摘要：

染色体易位是不孕不育的重要原因之一，也是植入前遗传学诊断（PGD）的主要适应证之一。单核苷酸多态性微阵列（SNP array）是近年用来于PGD诊断的新技术。与传统的单细胞诊断方法相比较，SNP微阵列具有更多的优点。文章从SNP array原理、SNP array PGD国内外现状及适应证、优缺点及SNP array在PGD中的应用和展望等方面进行阐述。

关键词: 植入前遗传学诊断, 单核苷酸多态性微阵列

CLC Number:

R321-33

LI Gang.. Application of single nucleotide polymorphism microarray in preimplantation genetic diagnosis of chromosomal translocation carrier.[J]. Acta Metallurgica Sinica, DOI: 10.7504/fk2016020110.

李刚. 单核苷酸多态性微阵列在染色体易位植入前遗传学诊断中的应用[J]. 中国实用妇科与产科杂志, DOI: 10.7504/fk2016020110.

References

[1]     Liu Y，Kong XD，Wu QH，et al.Karyotype analysis in large-sample infertile couples living in Central China: a study of 14965 couples[J].J Assist Reprod Genet，2013，30（4）:547-553.

[2]    Alfarawati S，Fragouli E，Colls P，et al.First births after preimplantation genetic diagnosis of structural chromosome abnormalities using comparative genomic hybridization and microarray analysis[J].Hum Reprod，2011，26（6）:1560-1574.

[3]     Treff NR，Northrop LE，Kasabwala K，et al.Single nucleotide polymorphism microarray-based concurrent screening of 24-chromosome aneuploidy and unbalanced translocations in preimplantation human embryos[J].Fertil Steril，2011，95（5）:1606-1612.e1-2.

[4]     Li G，Jin H，Xin Z，et al.Increased IVF pregnancy rates after microarray preimplantation genetic diagnosis due to parental translocations[J].Syst Biol Reprod Med，2014，60（2）:119-124.

[5]     Dahdouh EM，Balayla J，Audibert F，et al.Technical update: preimplantation genetic diagnosis and screening[J].J Obstet Gynaecol Can，2015，37（5）:451-463.

[6]     Treff NR，Su J，Tao X，et al.Accurate single cell 24 chromosome aneuploidy screening using whole genome amplification and single nucleotide polymorphism microarrays[J].Fertil Steril，2010，94（6）:2017-2021．

[7]     Papenhausen P，Schwartz S，Risheg H，et al.UPD detection using homozygosity profiling with a SNP genotyping microarray[J].Am J Med Genet A，2011，155A （4）:757-768.

[8]     Brezina PR，Brezina DS，Kearns WG.Preimplantation genetic testing[J].BMJ，2012，18:e5908.

[9]     Handyside AH，Harton GL，Mariani B，et al.Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes[J].J Med Genet，2010，47（10）:651-658.

[10]     Natesan SA，Bladon AJ，Coskun S，et al.Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro[J].Genet Med，2014，16（11）:838-845.

[11]     Li G，Liu Y，He NN，et al.Molecular karyotype single nucleotide polymorphism analysis of early fetal demise[J].Syst Biol Reprod Med，2013，59（4）:227-231.

（2015-12-15收稿）