Top

Journal of Assisted Reproduction and Genetics

Published in:

01-07-2010 | genetics

Birth of a healthy infant following preimplantation PKHD1 haplotyping for autosomal recessive polycystic kidney disease using multiple displacement amplification

Authors: Eduardo C. Lau, Marleen M. Janson, Mark R. Roesler, Ellis D. Avner, Estil Y. Strawn, David P. Bick

Published in: Journal of Assisted Reproduction and Genetics | Issue 7/2010

Abstract

Purpose

To develop a reliable preimplantation genetic diagnosis protocol for couples who both carry a mutant PKHD1 gene wishing to conceive children unaffected with autosomal recessive polycystic kidney disease (ARPKD).

Methods

Development of a unique protocol for preimplantation genetic testing using whole genome amplification of single blastomeres by multiple displacement amplification (MDA), and haplotype analysis with novel short tandem repeat (STR) markers from the PKHD1 gene and flanking sequences, and a case report of successful utilization of the protocol followed by successful IVF resulting in the birth of an infant unaffected with ARPKD.

Results

We have developed 20 polymorphic STR markers suitable for linkage analysis of ARPKD. These linked STR markers have enabled unambiguous identification of the PKHD1 haplotypes of embryos produced by at-risk couples.

Conclusions

We have developed a reliable protocol for preimplantation genetic diagnosis of ARPKD using single-cell MDA products for PKHD1 haplotyping.

Harris PC, Torres VE. Polycystic kidney disease. Annu Rev Med. 2009;60:321–37.CrossRefPubMed

Dell KM, Sweeney WE, Avner ED. Polycystic kidney disease. In: Avner ED, Harmon WE, Niaudet P, Yoshikawa N, editors. Pediatric nephrology. 6th ed. Heidelberg: Springer-Verlag; 2009. p. 849–88.

Sweeney WE, Avner ED. Molecular and cellular pathophysiology of Autosomal recessive polycystic kidney disease. Cell Tissue Res. 2006;326:671–85.CrossRefPubMed

Dell KM, Avner ED (July 2008) Autosomal recessive polycystic kidney disease. In: GeneClinics: Online Clinical Genetic Information Resource; www.geneclinics.org

Sweeney WE, Avner ED. Renal cystic disease: new insights for the clinician. Pediatr Clin North Am. 2006;53:889–909.CrossRefPubMed

European Polycystic Kidney Disease Consortium. The polycystic kidney disease 1 gene encodes a 14kb transcript and lies within a duplicated region on chromosome 16. Cell. 1994;77:881–94.CrossRef

Mochizuki T, Wu G, Hayashi T, Xenophontos SL, Veldhuisen B, Saris JJ, et al. PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science. 1996;272:1339–42.CrossRefPubMed

Hughes J, Ward CJ, Peral B, Aspinwall R, Clark K, San Millán JL, et al. The polycystic kidney disease (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nat Genet. 1995;10:151–60.CrossRefPubMed

Ward CJ, Hogan MC, Rossetti S, Walker D, Sneddon T, Wang X, et al. The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet. 2002;30:259–69.CrossRefPubMed

10.

Onuchic LF, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z, et al. PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel ß-helix 1 repeats. Am J Hum Genet. 2002;70:1305–17.CrossRefPubMed

11.

Bick DP, Lau EC. Preimplantation genetic diagnosis. Pediatr Clin North Am. 2006;53(4):559–77.CrossRefPubMed

12.

Swanson A, Strawn E, Lau E, Bick D. Preimplantation genetic diagnosis: technology and clinical applications. WMJ. 2007;106(3):145–51.PubMed

13.

Spits C, Sermon K. PGD for monogenic disorders: aspects of molecular biology. Prenat Diagn. 2008;29(1):50–6.CrossRef

14.

Fallon L, Harton GL, Sisson ME, Rodriguez E, Field LK, Fugger EF, et al. Preimplantation genetic diagnosis for spinal muscular atrophy type I. Neurology. 1999;53(5):1087–90.PubMed

15.

Xu K, Shi ZM, Veeck LL, Hughes MR, Rosenwaks Z. First unaffected pregnancy using preimplantation genetic diagnosis for sickle cell anemia. JAMA. 1999;281:1701–6.CrossRefPubMed

16.

Consugar MB, Anderson SA, Rossetti S, Pankratz S, Ward CJ, Torra R, et al. Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease. Am J Kidney Dis. 2005;45(1):77–87.CrossRefPubMed

17.

Bick SL, Bick BP, Wells BE, Roesler MR, Strawn EY, Lau EC. Preimplantation HLA haplotyping using tri-, tetra-, and pentanucleotide short tandem repeats for HLA matching. J Assist Reprod Genet. 2008;25:323–31.CrossRefPubMed

18.

Verlinsky Y, Rechitsky S, Verlinsky O, Chistokhina A, Sharapova T, Masciangelo C, et al. Preimplantation diagnosis for neurofibromatosis. Reprod Biomed Online. 2002;4(3):218–22.CrossRefPubMed

19.

Michaelides K, Tuddenham EGD, Turner C, Lavender B, Lavery SA. Live birth following the first mutation specific pre-implantation genetic diagnosis for haemophilia A. Thromb Haemost. 2006;95:373–9.PubMed

20.

Sanchez-Garcia JF, Fallardo D, Ramirez L, Vidal F. Multiple fluorescent analysis of four short tandem repeats for rapid haemophilia A molecular diagnosis. Thromb Haemost. 2005;94(5):1099–103.PubMed

21.

Spits C, De Rycke M, Verpoest W, Lissens W, Van Steirteghem A, Liebaers I, et al. Preimplantation genetic diagnosis for Marfan syndrome. Fertil Steril. 2006;86(2):310–20.CrossRefPubMed

22.

Christofidou C, Sofocleous C, Vrettou C, Destouni A, Traeger-Synodinos J, Kekou K, et al. PGD for X-linked and gender-dependent disorders using a robust, flexible single-tube PCR protocol. Reprod Biomed Online. 2009;19(3):418–25.CrossRefPubMed

23.

Spits C, De Rycke M, Van Ranst N, Joris H, Verpoest W, Lissens W, et al. Preimplantation genetic diagnosis for neurofibromatosis type 1. Mol Hum Reprod. 2005;11(5):381–7.CrossRefPubMed

24.

Malcov M, Ben-Yosef D, Schwartz T, Mey-Raz N, Azem F, Lessing JB, et al. Preimplantation genetic diagnosis (PGD) for Duchenne muscular dystrophy (DMD) by triplex-nested PCR. Prenat Diagn. 2005;25:1200–5.CrossRefPubMed

25.

Gigarel N, Frydman N, Burlet P, Kerbrat V, Tachdjian G, Fanchin R, et al. Preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease. Reprod Biomed Online. 2008;16(1):152–8.CrossRefPubMed

26.

Handyside AH, Robinson MD, Simpson RJ, Omar MB, Shaw M-A, Grudzinskas JG, et al. Isothermal whole genome amplification from single and small numbers of cells: a new era for preimplantation genetic diagnosis of inherited disease. Mol Hum Reprod. 2004;10(10):676–72.CrossRef

27.

Hellani A, Coskun S, Benkhalifa M, Thakhi A, Sakati N, Al-Odaib A, et al. Multiple displacement amplification on single cell and possible PGD applications. Mol Hum Reprod. 2004;10(11):847–52.CrossRefPubMed

28.

Spits C, Le Caignec C, De Rycke M, Van Haute L, Van Steirteghem A, Liebaers I, et al. Optimization and evaluation of single-cell whole-genome multiple displacement amplification. Hum Mutat. 2006;27(5):496–503.CrossRefPubMed

29.

Spits C, Le Caignec C, De Rycke M, Van Haute L, Van Steirteghem A, Liebaers I, et al. Whole-genome multiple displacement amplification from single cells. Nat Protoc. 2006;1(4):1965–70.CrossRefPubMed

30.

Renwick PJ, Lewis CM, Abbs S, Ogilvie CM. Determination of the genetic status of cleavage-stage human embryos by microsatellite marker analysis following multiple displacement amplification. Prenat Diagn. 2007;27:206–15.CrossRefPubMed

31.

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;13(6):431–6.CrossRefPubMed

32.

Ren Z, Zeng H-T, Xu Y-W, Zhuang G-L, Deng J, Zhang C, et al. Preimplantation genetic diagnosis for Duchenne muscular dystrophy by multiple displacement amplification. Fertil Steril. 2009;91(2):359–64.CrossRefPubMed

33.

Glentis S, SenGupta S, Thornhill A, Wang R, Craft I, Harper JC. Molecular comparison of single cell MDA products derived from different cell types. Reprod BioMed Online. 2009;19:89–98.CrossRefPubMed

34.

Qubbaj W, Al-Aqeel AI, Al-Hassnan Z, Al-Duraihim A, Awartani K, Al-Rejjal R, et al. Preimplantation genetic diagnosis of Morquio disease. Prenat Diagn. 2008;28(10):900–3.CrossRefPubMed

35.

Burlet P, Frydman N, Gigarel N, Kerbrat V, Tachdjian G, Feyereisen E, et al. Multiple displacement amplification improves PGD for fragile X syndrome. Mol Hum Reprod. 2006;12(10):647–52.CrossRefPubMed

36.

Obradors A, Fernández E, Rius M, Oliver-Bonet M, Martínez-Fresno M, Benet J et al (2009) Outcome of twin babies free of Von Hippel-Lindau disease after a double-factor preimplantation genetic diagnosis: monogenetic mutation analysis and comprehensive aneuploidy screening. Fertil Steril 91(3):933.e1–7. [Epub 2009 Jan 10]

37.

Dean FB, Hosono S, Fang L, Wu X, Faruqi AF, Bray-Ward P, et al. Comprehensive human genome amplification using multiple displacement amplification. Proc Natl Acad Sci USA. 2002;99:5261–6.CrossRefPubMed

38.

Hellani A, Sammour A, Johansson L, El-Sheikh A. Delivery of a normal baby after preimplantation genetic diagnosis for non-ketotic hyperglycinaemia. Reprod BioMed Online. 2008;16(6):893–7.CrossRefPubMed

39.

Lledo B, Ten J, Rodriguez-Arnedo D, Llacer J, Bernabeu R. Preimplantation genetic diagnosis of X-linked retinoschisis. Reprod BioMed Online. 2008;16(6):886–92.CrossRefPubMed

40.

Hellani A, Abu-Amero K, Azouri J, Al-Sharif H, Barblet H, El-Akoum S. Pregnancy after preimplantation genetic diagnosis for brachydactyly type B. Reprod Biomed Online. 2009;18(1):127–31.CrossRefPubMed

41.

Benson G. Tandem repeats finder: a program to analyze DNA sequences. Nucleic Acids Res. 1999;27(2):573–80.CrossRefPubMed

42.

Brownstein MJ, Carpten JD, Smith JR. Modulation of non-templated nucleotide addition by Taq DNA polymerase: primer modifications that facilitate genotyping. BioTechniques. 1996;20:1004–10.PubMed

43.

Altarescu G, Geva TE, Brooks B, Margalioth E, Levy-Lahad E, Renbaum P. PGD on a recombinant allele: crossover between the TSC2 gene and ‘linked’ markers impairs accurate diagnosis. Prenat Diagn. 2008;28(10):929–33.CrossRefPubMed

44.

Li Y, Kim H-J, Zheng C, Chow WHA, Lim J, Keenan B, et al. Primase-based whole genome amplification. Nucleic Acids Res. 2008;36(13):e79. Epub 2008 Jun 17.CrossRefPubMed

45.

Hellani A, Abu-Amero K, Azouri J, El-Akoum S. Successful pregnancies after application of array-comparative genomic hybridization in PGS-aneuploidy screening. Reprod BioMed Online. 2008;17(6):841–7.CrossRefPubMed

46.

Handyside AH, Harton GL, Mariani B, Thornhill AR, Affara N, Shaw M-A et al (2009 Oct. 25) Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes. J Med Genet. [Epub ahead of print]

47.

Kumar G, Garnova E, Reagin M, Vidali A. Improved multiple displacement amplification with phi29 DNA polymerase for genotyping of single human cells. BioTechniques. 2008;44(7):879–90.CrossRefPubMed

48.

Chow JF, Yeung WS, Lau EY, Lam ST, Tong T, Ng EH, Ho PC (2009) Singleton birth after preimplantation genetic diagnosis for Huntington disease using whole genome amplification. Fertil Steril 92(2):828.e7–10. [Epub 2009 Jun 9].

Title: Birth of a healthy infant following preimplantation PKHD1 haplotyping for autosomal recessive polycystic kidney disease using multiple displacement amplification
Authors: Eduardo C. Lau
Marleen M. Janson
Mark R. Roesler
Ellis D. Avner
Estil Y. Strawn
David P. Bick
Publication date: 01-07-2010
Publisher: Springer US
Published in: Journal of Assisted Reproduction and Genetics / Issue 7/2010
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI: https://doi.org/10.1007/s10815-010-9432-5

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Birth of a healthy infant following preimplantation PKHD1 haplotyping for autosomal recessive polycystic kidney disease using multiple displacement amplification

Abstract

Purpose

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusions

Please log in to get access to this content

Other articles of this Issue 7/2010

RETRACTED ARTICLE: Can fresh embryo transfers be replaced by cryopreserved-thawed embryo transfers in assisted reproductive cycles? A randomized controlled trial

Male infertility in China: laboratory finding for AZF microdeletions and chromosomal abnormalities in infertile men from Northeastern China

Impact of freezing/thawing technique on sperm DNA integrity in HIV-1 patients

Are zona pellucida laser drilling and polar body biopsy safe for in vitro matured oocytes?

Antral follice counts (AFC) predict ovarian response and pregnancy outcomes in oocyte donation cycles

Desperately seeking embryos (from leftover oocytes)