Preimplantation genetic diagnosis for the Kell genotype

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Date of download: 6/21/2016 Copyright © 2016 American Medical Association. All rights reserved. From: Preimplantation Diagnosis for Fanconi Anemia Combined.

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Preimplantation genetic diagnosis for the Kell genotype Yury Verlinsky, Ph.D., Svetlana Rechitsky, Ph.D., Seckin Ozen, M.D., Christina Masciangelo, M.Sc., Jonathan Ayers, M.D., Anver Kuliev, M.D., Ph.D. Fertility and Sterility Volume 80, Issue 4, Pages 1047-1051 (October 2003) DOI: 10.1016/S0015-0282(03)01156-7

FIGURE 1 Pedigree of couples at risk for producing children with Kell disease presented for PGD. (A), Pedigree of the first family. Upper panel: The father (upper left) has the K1/K2 genotype, K1 allele linked to 118-bp repeats and K2 allele to 116-bp repeats of intron 1 of the CFTR polymorphic marker, while the mother (upper right) has the K2/K2 genotype, one allele linked to 118-bp repeats and the other to 112-bp repeats of intron 1 of the CFTR polymorphic marker. Lower panel: Reproductive outcomes of this couple, including previous twin pregnancy resulting in death of one of the twins near the birth due to HDN (lower left). Two healthy twins with the K2/K2 genotype as assessed by PGD are shown on the lower right, as also seen from the information on linked polymorphic markers. (B), Pedigree of the second family. Upper panel: The father (upper left) has the K1/K2 genotype, with linkage shown for K1 and K2 alleles, while the mother (upper right) has the K2/K2 genotype, with linkage shown for both normal alleles. Lower panel: Reproductive outcomes of this couple, including previous two pregnancies resulting in the birth of healthy children, although the first one had the K1/K2 genotype (lower left), and one resulting in premature delivery and death with genotype K1/K2 (lower right). The K1 allele is shown as solid black bars, with polymorphic markers linked to both K1 and K2 alleles. Verlinsky. Preimplantation testing for Kell disease.Fertil Steril 2003. Fertility and Sterility 2003 80, 1047-1051DOI: (10.1016/S0015-0282(03)01156-7)

FIGURE 2 PGD for Kell genotype. (A), Schematic diagram showing C-to-T substitution in exon 6 of KEL gene on chromosome 7. Black arrows demonstrate the positions of nested primers. (B), Restriction map for BsmI digestion showing the gain of the BsmI site by the K1 allele (lower line). (C), Polyacrylamid gel electrophoresis of the BsmI digested PCR products of 16 blastomeres from the first PGD couple, demonstrating the K1 allele–free genotype in embryo nos. 1, 4, 7, 9, 10, 11, and 17, from which embryo nos. 1 and 9 were transferred, resulting in a twin pregnancy and the birth of healthy K1 allele–free children. The remaining 9 embryos have the K1/K2 genotype. L = standard; F = paternal DNA amplified from sperm; M = maternal normal amplified DNA; Un = undigested PCR product; K1/K2 = affected blastomere; K2/K2 = normal blastomere. Verlinsky. Preimplantation testing for Kell disease.Fertil Steril 2003. Fertility and Sterility 2003 80, 1047-1051DOI: (10.1016/S0015-0282(03)01156-7)