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Instability in the transmission of the myotonic dystrophy CTG repeat in human oocytes and preimplantation embryos  Nicola L. Dean, B.Sc., Seang Lin Tan,

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Presentation on theme: "Instability in the transmission of the myotonic dystrophy CTG repeat in human oocytes and preimplantation embryos  Nicola L. Dean, B.Sc., Seang Lin Tan,"— Presentation transcript:

1 Instability in the transmission of the myotonic dystrophy CTG repeat in human oocytes and preimplantation embryos  Nicola L. Dean, B.Sc., Seang Lin Tan, M.D., Asangla Ao, Ph.D.  Fertility and Sterility  Volume 86, Issue 1, Pages (July 2006) DOI: /j.fertnstert Copyright © 2006 American Society for Reproductive Medicine Terms and Conditions

2 FIGURE 1 Standardization of triplet-primed PCR fragment analysis, at the single-cell level, on the DMPK (CTG)n repeat that is expanded in DM1. (A) Lymphocyte from individual carrying DMPK (CTG)21 and (CTG)150 repeats. (B) Lymphocyte from DM1-affected individual carrying DMPK (CTG)31 and (CTG)500 repeats. (C) Fibroblast from DM1-affected infant carrying DMPK (CTG)5 and (CTG)1100 repeats. (D) Negative control. Dean. Instability of DM1 repeat in human embryos. Fertil Steril 2006. Fertility and Sterility  , DOI: ( /j.fertnstert ) Copyright © 2006 American Society for Reproductive Medicine Terms and Conditions

3 FIGURE 2 Triplet-primed PCR of oocyte and preimplantation embryos, at different developmental stages, from a DM1-affected woman. Variable degrees of repeat expansion are evident. (A) Paternal alleles carrying DMPK (CTG)12 and (CTG)24 repeats. (B) Maternal alleles from DM-1–affected women (patient B) carrying DMPK (CTG)5 and (CTG)230 repeats. (C) Immature oocyte at germinal vesicle stage with an expansion in the congenital range. (D) A cleaved embryo at the eight-cell stage with a maternal-type expansion. (E) A second cleaved embryo at the eight-cell stage with an expansion in the congenital range. (F) A third cleaved embryo at the eight−cell stage with an intermediate expansion. Dean. Instability of DM1 repeat in human embryos. Fertil Steril 2006. Fertility and Sterility  , DOI: ( /j.fertnstert ) Copyright © 2006 American Society for Reproductive Medicine Terms and Conditions

4 Figure 3 Intergenerational instability of the normal DMPK (CTG)n repeat in donated IVF embryos. (A) Maternal alleles with DMPK (CTG)5 and (CTG)20 repeats. (B) Paternal alleles with DMPK (CTG)13 and (CTG)22 repeats. (C) Embryo alleles with DMPK (CTG)5 and (CTG)26 repeats. The (CTG)22 repeat from the father expanded by four repeat units upon transmission to the embryo. Dean. Instability of DM1 repeat in human embryos. Fertil Steril 2006. Fertility and Sterility  , DOI: ( /j.fertnstert ) Copyright © 2006 American Society for Reproductive Medicine Terms and Conditions


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