Preimplantation genetic haplotyping a new application for diagnosis of translocation carrier's embryos- preliminary observations of two robertsonian translocation carrier families.
OBJECTIVE
Preimplantation genetic diagnosis using fluorescence in-situ hybridization (PGD-FISH) is currently the most common reproductive solution for translocation carriers. However, this technique usually does not differentiate between embryos carrying the balanced form of the translocation and those carrying the homologous normal chromosomes. We developed a new application of preimplantation genetic haplotyping (PGH) that can identify and distinguish between all forms of the translocation status in cleavage stage embryos prior to implantation.


METHODS
Polymorphic markers were used to identify and differentiate between the alleles that carry the translocation and those that are the normal homologous chromosomes.


RESULTS
Embryos from two families of robertsonian translocation carriers were successfully analyzed using polymorphic markers haplotyping.


CONCLUSIONS
Our preliminary results indicate that the PGH is capable of distinguishing between normal, balanced and unbalanced translocation carrier embryos. This method will improve PGD and will enable translocation carriers to avoid transmission of the translocation and the associated medical complications to offspring.
Shamash
Jana
J
Danek-Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel Hashomer, Ramat Gan, 52621, Israel. janashamash@gmail.com
Rienstein
Shlomit
S
Wolf-Reznik
Haike
H
Pras
Elon
E
Dekel
Michal
M
Litmanovitch
Talia
T
Brengauz
Masha
M
Goldman
Boleslav
B
Yonath
Hagith
H
Dor
Jehoshua
J
Levron
Jacob
J
Aviram-Goldring
Ayala
A
D010064:Embryo Implantation; D047108:Embryonic Development; D005260:Female; D005307:Fertilization in Vitro; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007246:Infertility / Q000628:therapy; D008297:Male; D021141:Nucleic Acid Amplification Techniques; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods*; D014178:Translocation, Genetic