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Preimplantation genetic diagnosis for α-and β-double thalassemia

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

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.

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References

  1. Bouljenkov V (1994) Epidemiology of haemoglobinopathies. In WHO Regional Working Group on the Prevention and Control of Thalassemia in Asia, Bangkok, Thailand

  2. Cai R, Li L, Liang X, et al. Prevalence survey and molecular characterization of alpha and beta thalassemia in Liuzhou city of Guangxi. Zhong Hua Liu Xing Bing Xue Za Zhi. 2002;23(4):281–5.

    Google Scholar 

  3. Xu XM, Zhou YQ, Luo GX, et al. The prevalence and spectrum of alpha and beta thalassemia in Guangdong Province: implications for the future health burden and population screening. J Clin Pathol. 2004;57:517–9.

    Article  PubMed  CAS  Google Scholar 

  4. Forget RG. Molecular genetics of the human globin genes. In: Steinberg MH, Forget BG, Higgs DR, Nagel RL, editors. Disorders of hemoglobin: genetics, pathophysiology and clinical management. UK: Cambridge University Press; 2001. p. 117–30.

    Google Scholar 

  5. Liang ST, Wong VCW, So WWK, Ma HK, Chan V, Todd D. Homozygous α-thalassemia: clinical presentation, diagnosis and management. A review of 46 cases. Br J Obstet Gynaecol. 1985;92:680–4.

    Article  PubMed  CAS  Google Scholar 

  6. Huang YJ, Ou XB, Yu YP, et al. The incidence rates and genotypes in children with α-thalassemia in Guangzhou region. Chin Pedi Hemat. 2005;10:205–8.

    Google Scholar 

  7. Duan S, Li HY, Chen Z, et al. The research on the mutation genotypes of α-thalassemia in Southern China. Zhong-Guo-Shi-Yan-Xue-Ye-Xue-Za-Zhi. 2003;11:54–60.

    Google Scholar 

  8. Chang MY, Soong YK, Wong ML. Preimplantation diagnosis of α-thalassemia by blastomere aspiration and polymerase chain reaction:preliminary experience. J Formos Med Assoc. 1996;95:203–8.

    PubMed  CAS  Google Scholar 

  9. Piyamongkol W, Harper JC, Delhanty J, et al. Preimplantation genetic diangositic protocols for α- and β-thalassemias using multiplex fluorescent PCR. Prenat Diagn. 2001;21:753–9.

    Article  PubMed  CAS  Google Scholar 

  10. Deng J, Peng WL, Li J, et al. Successful preimplantation genetic diagnosis for alpha- and beta-thalassemia in China. Prenat Diagn. 2006;26:1021–8.

    Article  PubMed  Google Scholar 

  11. Xu YW, Zeng YH, Deng J, et al. Preimplantation genetic diagnosis for α-thalassemia in China. J Assist Reprod Genet. 2009;26:399–403.

    Article  PubMed  Google Scholar 

  12. Chan V, Ng E, Yam I, et al. Experience in preimplantation genetic diagnosis for exclusion of homozygous α0 thalassemia. Prenat Diagn. 2006;26:1029–36.

    Article  PubMed  CAS  Google Scholar 

  13. Kanavakis E, Vrettou C, Palmer G, et al. Preimplantation genetic diagnosis in 10 couples at risk for transmitting beta-thalassemia major: Clinical experience including the initiation of six singleton pregnancies. Prenat Diagn. 1999;19:1217–22.

    Article  PubMed  CAS  Google Scholar 

  14. De Rycke M, Van de Velde H, Sermon K, et al. Preimplantation genetic diagnosis for sickle cell anemia and for beta-thalassemia. Prenat Diagn. 2001;21:214–22.

    Article  PubMed  Google Scholar 

  15. Jiao Z, Zhou C, Li J, et al. Birth of healthy children after preimplantation diagnosis of beta-thalassemia by whole genome amplification. Prenat Diagn. 2003;23:646–51.

    Article  PubMed  CAS  Google Scholar 

  16. El-Hashemite N, Wells D, Delhanty JD. Single cell detection of beta-thalassemia mutations using silver stained SSCP analysis: an application for preimplantation diagnosis. Mol Hum Reprod. 1997;3:693–8.

    Article  PubMed  CAS  Google Scholar 

  17. Dean FB, Hosono S, Fang L, et al. Comprehensive human genome amplification using multiple displacement amplification. Proc Natl Acad Sci USA. 2002;99:5261–6.

    Article  PubMed  CAS  Google Scholar 

  18. Hosono S, Faruqi AF, Dean FB, et al. Unbiased whole-genome amplification directly from clinical samples. Genome Res. 2003;13:954–64.

    Article  PubMed  CAS  Google Scholar 

  19. Spits C, Le Caignec C, De Rycke M, Liebaers I, Sermon K, et al. Whole-genome multiple displacement amplification from single cells. Nat Protoc. 2006;1(4):1965–70.

    Article  PubMed  CAS  Google Scholar 

  20. Ren Z, Zeng HT, Xu YW, et al. Preimplantation genetic diagnosis for Duchenne muscular dystrophy by multiple displacement amplification. Fertil Steril. 2009;91:359–64.

    Article  PubMed  CAS  Google Scholar 

  21. Lledo B, Ten H, Galan FM, Bernabeu R. Preimplantation genetic diagnosis of Marfan syndrome using multiple displacement amplification. Fertil Steril. 2006;86:949–55.

    Article  PubMed  CAS  Google Scholar 

  22. Judy F, Chow C, William S, Yeung B, Estella Y, Lau L, et al. Singleton birth after preimplantation genetic diagnosis for Huntington disease using whole genome amplification. Fertil Steril. 2009;92:828–7.

    Google Scholar 

  23. Renwick PL, Trussler J, Lashwood A, et al. Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells. Reprod Biomed Online. 2010;20:470–76.

    Google Scholar 

  24. Eduardo C, Marleen M, Mark R, Ellis D, et al. Birth of a healthy infant following preimplantation PKHD1 haplotyping for autosomal recessive polycystic kidney disease using multiple displacement amplification. J Assist Reprod Genet. 2010;27:397–407.

    Article  Google Scholar 

  25. Ren Z, Zhou C, Xu Y, Deng J, Zeng H, Zeng Y. Mutation and haplotype analysis for Duchenne muscular dystrophy by single cell multiple displacement amplification. Mol Hum Reprod. 2007;6:431–6.

    Article  Google Scholar 

  26. Ko TM, Tseng LH, Hsieh FJ, et al. Carrier detection and prenatal diagnosis of alpha-thalassemia of Southest Asian deletion by polymerase chain reaction. Hum Genet. 1992;88:245–8.

    Article  PubMed  CAS  Google Scholar 

  27. Varawalla NY, Dokras A, Old JM, Sargent IL, Barlow DH. An approach to preimplantation diagnosis of beta-thalassemia. Prenat Diagn. 1991;11:775–85.

    Article  PubMed  CAS  Google Scholar 

  28. Zhang JZ, Xu XM, Ma WF, Shan YX. A rapid reverse dot blot assay for all 18 beta-thalassemia in Chinese population. J Med Coll PLA. 1993;8:213–9.

    Google Scholar 

  29. Ping C, Mujun L, Linying Z, et al. Prenatal diagnosis of β-thalassemia on fetal DNA and in maternal plasma by fluorescent polymerase chain reaction. Journal of Guangxi Medical University. 2008;25:171–4.

    Google Scholar 

  30. Kuliev A, Rechitsky S, Verlinsky O, et al. Preimplantation diagnosis of thalassemia. J Assist Reprod Genet. 1998;15:219–25.

    Article  PubMed  CAS  Google Scholar 

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Acknowledgments

The study was supported by National Basic Research Program of China (973 Program) (Grant No. 2007CB948103)and China Medical Board of New York Inc (Grant No. 06840)

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Authors and Affiliations

  1. 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

    Xiaoting Shen, Yanwen Xu, Yiping Zhong, Canquan Zhou, Yanhong Zeng, Guanglun Zhuang, Chenhui Ding & Tao Li

Authors
  1. Xiaoting Shen
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  2. Yanwen Xu
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  3. Yiping Zhong
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  4. Canquan Zhou
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  5. Yanhong Zeng
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  6. Guanglun Zhuang
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  7. Chenhui Ding
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  8. Tao Li
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Corresponding author

Correspondence to Canquan Zhou.

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Capsule

Multiple displacement amplification method was used in preimplantation genetic diagnosis for α- and β-double thalassemia carriers.

Declaration

The authors report no financial or commercial conflicts of interest.

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Shen, X., Xu, Y., Zhong, Y. et al. Preimplantation genetic diagnosis for α-and β-double thalassemia. J Assist Reprod Genet 28, 957–964 (2011). https://doi.org/10.1007/s10815-011-9598-5

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  • DOI: https://doi.org/10.1007/s10815-011-9598-5

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