Accuracy of preimplantation genetic diagnosis in equine in vivo-recovered and in vitro-produced blastocysts
Y. H. Choi A , M. C. T. Penedo B , P. Daftari B , I. C. Velez A and K. Hinrichs A C D
+ Author Affiliations
- Author Affiliations
A Department of Veterinary Physiology and Pharmacology, Texas A&M University, 4466 TAMU, College Station, TX 77843-4466, USA.
B Veterinary Genetics Laboratory, University of California, Old Davis Road, Davis, CA 95616, USA.
C Department of Large Animal Clinical Sciences, Texas A&M University, 4475 TAMU, College Station, TX, 77843-4475, USA
D Corresponding author. Email: khinrichs@cvm.tamu.edu
Reproduction, Fertility and Development 28(9) 1382-1389 https://doi.org/10.1071/RD14419
Submitted: 31 October 2014 Accepted: 19 January 2015 Published: 17 March 2015
Abstract
Preimplantation genetic diagnosis has great potential in the horse, but information on evaluation of equine embryo biopsy samples is limited. Blastocysts were biopsied using a Piezo drill and methods for whole-genome amplification (WGA) investigated. Results for 33 genetic loci were then compared between biopsy samples from in vitro-produced (IVP) and in vivo-recovered (VIV) blastocysts. Under the experimental conditions described, WGA using the Qiagen Repli-g Midi kit was more accurate than that using the Illustra Genomiphi V2 kit (98.2% vs 25.8%, respectively). Using WGA with the Qiagen kit, three biopsy samples were evaluated from each of eight IVP and 19 VIV blastocysts, some produced using semen from stallions carrying the genetic mutations associated with the diseases hereditary equine regional dermal asthenia (HERDA), hyperkalemic periodic paralysis (HYPP) or polysaccharide storage myopathy 1 (PSSM1). Three of 81 biopsy samples (3.7%) returned <50% accuracy. In the remaining 78 samples, overall accuracy was 99.3% (2556/2574 loci interrogated). Accuracy did not differ significantly between samples from IVP and VIV blastocysts. Allele drop-out in heterozygous loci was 1.6% (17/1035). Accuracy for sex determination was 100%; accuracy for heterozygosity for disease-causing mutations was 97.7% (43/44). In conclusion, Piezo-driven embryo biopsy with WGA has >95% overall accuracy in IVP and VIV embryos, and this technique is suitable for use in a clinical setting.
Additional keywords: embryo biopsy, genetic screening, HERDA, HYPP, polymerase chain reaction (PCR), PSSM, whole genome amplification.
References
Bernoco, D., and Bailey, E. (1998). Frequency of the SCID gene among Arabian horses in the USA. Anim. Genet. 29, 41–42.| Frequency of the SCID gene among Arabian horses in the USA.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DyaK1cXksFKltbw%3D&md5=b7f45c46fbd4710314dd548138e77d47CAS | 9682449PubMed |
Brault, L., and Penedo, M. C. T. (2009). Refinement of the equine cerebellar abiotrophy locus on ECA2 by haplotype analysis. J. Equine Vet. Sci. 29, 318–319.
| Refinement of the equine cerebellar abiotrophy locus on ECA2 by haplotype analysis.Crossref | GoogleScholarGoogle Scholar |
Brooks, S. A., Gabreski, N., Miller, D., Brisbin, A., Brown, H. E., Streeter, C., Mezey, J., Cook, D., and Antczak, D. F. (2010). Whole-genome SNP association in the horse: identification of a deletion in myosin Va responsible for lavender foal syndrome. PLoS Genet. 6, e1000909.
| Whole-genome SNP association in the horse: identification of a deletion in myosin Va responsible for lavender foal syndrome.Crossref | GoogleScholarGoogle Scholar | 20419149PubMed |
Choi, Y. H., Love, C. C., Love, L. B., Varner, D. D., Brinsko, S., and Hinrichs, K. (2002). Developmental competence in vivo and in vitro of in vitro-matured equine oocytes fertilised by intracytoplasmic sperm injection with fresh or frozen–thawed spermatozoa. Reproduction 123, 455–465.
| Developmental competence in vivo and in vitro of in vitro-matured equine oocytes fertilised by intracytoplasmic sperm injection with fresh or frozen–thawed spermatozoa.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD38Xit1Cls7o%3D&md5=f48afb639292ba8079fca99a04430adbCAS | 11882023PubMed |
Choi, Y. H., Chung, Y. G., Walker, S. C., Westhusin, M. E., and Hinrichs, K. (2003). In vitro development of equine nuclear transfer embryos: effects of oocyte maturation media and amino acid composition during embryo culture. Zygote 11, 77–86.
| In vitro development of equine nuclear transfer embryos: effects of oocyte maturation media and amino acid composition during embryo culture.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD3sXht1Wgs70%3D&md5=bdd288ede503da49a0ebe6f20bc9c313CAS | 12625532PubMed |
Choi, Y. H., Love, L. B., Varner, D. D., and Hinrichs, K. (2006). Holding immature equine oocytes in the absence of meiotic inhibitors: effect on germinal vesicle chromatin and blastocyst development after intracytoplasmic sperm injection. Theriogenology 66, 955–963.
| Holding immature equine oocytes in the absence of meiotic inhibitors: effect on germinal vesicle chromatin and blastocyst development after intracytoplasmic sperm injection.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD28Xot1Wrur8%3D&md5=8cee9b8d0196ed7edf5b09ca73444ea5CAS | 16574209PubMed |
Choi, Y. H., Harding, H. D., Hartman, D. L., Obermiller, A. D., Kurosaka, S., McLaughlin, K. J., and Hinrichs, K. (2009). The uterine environment modulates trophectodermal POU5F1 levels in equine blastocysts. Reproduction 138, 589–599.
| The uterine environment modulates trophectodermal POU5F1 levels in equine blastocysts.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD1MXhtFOgtrjK&md5=f49e5c1f5bf0d6946e28b6883809aafdCAS | 19525365PubMed |
Choi, Y. H., Gustafson-Seabury, A., Velez, I. C., Hartman, D. L., Bliss, S., Riera, F. L., Roldan, J. E., Chowdhary, B., and Hinrichs, K. (2010). Viability of equine embryos after puncture of the capsule and biopsy for preimplantation genetic diagnosis. Reproduction 140, 893–902.
| Viability of equine embryos after puncture of the capsule and biopsy for preimplantation genetic diagnosis.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BC3MXisFKqtbs%3D&md5=5bc3b412cb20c4e2d33402ec0d1c36ecCAS | 20843896PubMed |
Choi, Y. H., Velez, I. C., Riera, F. L., Roldán, J. E., Hartman, D. L., Bliss, S. B., Blanchard, T. L., Hayden, S. S., and Hinrichs, K. (2011). Successful cryopreservation of expanded equine blastocysts. Theriogenology 76, 143–152.
| Successful cryopreservation of expanded equine blastocysts.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BC3MXntFKitbg%3D&md5=c6b8de627f5116aa113d9f358e004d22CAS | 21458049PubMed |
Hahn, S., Zhong, X. Y., Troeger, C., Burgemeister, R., Gloning, K., and Holzgreve, W. (2000). Current applications of single-cell PCR. Cell. Mol. Life Sci. 57, 96–105.
| Current applications of single-cell PCR.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD3cXhslOrs78%3D&md5=c1365a63def05ba4206928ad26e0a36cCAS | 10949583PubMed |
Handyside, A. H., Robinson, M. D., Simpson, R. J., Omar, M. B., Shaw, M. A., Grudzinskas, J. G., and Rutherford, A. (2004). Isothermal whole-genome amplification from single and small numbers of cells: a new era for preimplantation genetic diagnosis of inherited disease. Mol. Hum. Reprod. 10, 767–772.
| Isothermal whole-genome amplification from single and small numbers of cells: a new era for preimplantation genetic diagnosis of inherited disease.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD2cXns1Omtrs%3D&md5=772e3a68959e1339a8359c7c8c88db59CAS | 15322224PubMed |
Herrera, C., Morikawa, M. I., Bello, M. B., von Meyeren, M., Centeno, J. E., Dufourq, P., Martinez, M. M., and Llorente, J. (2014). Setting up equine embryo gender determination by preimplantation genetic diagnosis in a commercial embryo transfer program. Theriogenology 81, 758–763.
| Setting up equine embryo gender determination by preimplantation genetic diagnosis in a commercial embryo transfer program.Crossref | GoogleScholarGoogle Scholar | 1:STN:280:DC%2BC2czmsFynsg%3D%3D&md5=ad415bb358d600e050ab656b6a4c162eCAS | 24439164PubMed |
Herszberg, B., McCue, M. E., Larcher, T., Mata, X., Vaiman, A., Chaffaux, S., Chérel, Y., Valberg, S. J., Mickelson, J. R., and Guérin, G. (2009). A GYS1 gene mutation is highly associated with polysaccharide storage myopathy in Cob Normand draught horses. Anim. Genet. 40, 94–96.
| A GYS1 gene mutation is highly associated with polysaccharide storage myopathy in Cob Normand draught horses.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD1MXivVGksbk%3D&md5=12533e2bfc9a3a2d31bbbbe50ed9e49eCAS | 18822097PubMed |
Hinrichs, K., and Choi, Y. H. (2012). Equine embryo biopsy, genetic testing and cryopreservation. J. Equine Vet. Sci. 32, 390–396.
| Equine embryo biopsy, genetic testing and cryopreservation.Crossref | GoogleScholarGoogle Scholar |
Hinrichs, K., Choi, Y. H., Love, L. B., Varner, D. D., Love, C. C., and Walckenaer, B. E. (2005). Chromatin configuration within the germinal vesicle of horse oocytes: changes post mortem and relationship to meiotic and developmental competence. Biol. Reprod. 72, 1142–1150.
| Chromatin configuration within the germinal vesicle of horse oocytes: changes post mortem and relationship to meiotic and developmental competence.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD2MXjslSntrw%3D&md5=80f70cf6b90cb3fa0f8dd1e8bda9b0e5CAS | 15647456PubMed |
Hinrichs, K., Choi, Y. H., Love, C. C., and Spacek, S. (2014). Use of in vitro maturation of oocytes, intracytoplasmic sperm injection and in vitro culture to the blastocyst stage in a commercial equine assisted reproduction program. J. Equine Vet. Sci. 34, 176.
| Use of in vitro maturation of oocytes, intracytoplasmic sperm injection and in vitro culture to the blastocyst stage in a commercial equine assisted reproduction program.Crossref | GoogleScholarGoogle Scholar |
Huhtinen, M., Peippo, J., and Bredbacka, P. (1997). Successful transfer of biopsied equine embryos. Theriogenology 48, 361–367.
| Successful transfer of biopsied equine embryos.Crossref | GoogleScholarGoogle Scholar | 1:STN:280:DC%2BD28zgtVyrtw%3D%3D&md5=c4a223f1a202f640c46acdae056bbcf0CAS | 16728134PubMed |
Jacobson, C. C., Choi, Y. H., Hayden, S. S., and Hinrichs, K. (2010). Recovery of mare oocytes on a fixed biweekly schedule and resulting blastocyst formation after intracytoplasmic sperm injection. Theriogenology 73, 1116–1126.
| Recovery of mare oocytes on a fixed biweekly schedule and resulting blastocyst formation after intracytoplasmic sperm injection.Crossref | GoogleScholarGoogle Scholar | 20202674PubMed |
McCue, M. E., Valberg, S. J., Jackson, M., Borgia, L., Lucio, M., and Mickelson, J. R. (2009). Polysaccharide storage myopathy phenotype in quarter horse-related breeds is modified by the presence of an RYR1 mutation. Neuromuscul. Disord. 19, 37–43.
| Polysaccharide storage myopathy phenotype in quarter horse-related breeds is modified by the presence of an RYR1 mutation.Crossref | GoogleScholarGoogle Scholar | 1:STN:280:DC%2BD1M7htlSqtA%3D%3D&md5=f2e558870c8d22b7817d148e4cd75461CAS | 19056269PubMed |
Piyamongkol, W., Bermudez, M. G., Harper, J. C., and Wells, D. (2003). Detailed investigation of factors influencing amplification efficiency and allele drop-out in single-cell PCR: implications for preimplantation genetic diagnosis. Mol. Hum. Reprod. 9, 411–420.
| Detailed investigation of factors influencing amplification efficiency and allele drop-out in single-cell PCR: implications for preimplantation genetic diagnosis.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD3sXks1Wqsbk%3D&md5=c10b124d2141eccedd401ed006a62570CAS | 12802048PubMed |
Rudolph, J. A., Spier, S. J., Byrns, G., Rojas, C. V., Bernoco, D., and Hoffman, E. P. (1992). Periodic paralysis in quarter horses: a sodium channel mutation disseminated by selective breeding. Nat. Genet. 2, 144–147.
| Periodic paralysis in quarter horses: a sodium channel mutation disseminated by selective breeding.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DyaK38XmtlWmtbk%3D&md5=405e55e997e4185a25bb73e20747a5fbCAS | 1338908PubMed |
Seidel, G. E., Cullingford, E. L., Stokes, J. E., Carnevale, E. M., and McCue, P. M. (2010). Pregnancy rates following transfer of biopsied and/or vitrified equine embryos: evaluation of two biopsy techniques. Anim. Reprod. Sci. 121S, 297–298.
Spits, C., and Sermon, K. (2009). PGD for monogenic disorders: aspects of molecular biology. Prenat. Diagn. 29, 50–56.
| PGD for monogenic disorders: aspects of molecular biology.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD1MXjs1Khtrc%3D&md5=9718cc165db57a549123ff60e9f668fcCAS | 19101953PubMed |
Troedsson, M. H. T., Paprocki, A. M., Koppang, R. W., Syverson, C. M., Griffin, P., Klein, C., and Dobrinski, J. R. (2010). Transfer success of biopsied and vitrified embryos. Anim. Reprod. Sci. 121S, 295–296.
Tryon, R. C., Penedo, M. C. T., McCue, M. E., Valberg, S. J., Mickelson, J. R., Famula, T. R., Wagner, M. L., Jackson, M., Hamilton, M. J., Nooteboom, S., and Bannasch, D. L. (2009). Evaluation of allele frequencies of inherited disease genes in subgroups of American Quarter Horses. J. Am. Vet. Med. Assoc. 234, 120–125.
| Evaluation of allele frequencies of inherited disease genes in subgroups of American Quarter Horses.Crossref | GoogleScholarGoogle Scholar | 19119976PubMed |
Ward, T. L., Valberg, S. J., Adelson, D. L., Abbey, C. A., Binns, M. M., and Mickelson, J. R. (2004). Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV. Mamm. Genome 15, 570–577.
| Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV.Crossref | GoogleScholarGoogle Scholar | 1:CAS:528:DC%2BD2cXlvFemsLg%3D&md5=2eb5d0f5b50f85ff10b93098a16b1499CAS | 15366377PubMed |
