Download Atlas of preimplantation genetic diagnosis by Kuliev, Anver; Rechitsky, Svetlana; Verlinsky, Oleg PDF

By Kuliev, Anver; Rechitsky, Svetlana; Verlinsky, Oleg

"Based on one major center's adventure with over 100,000 instances, the hot version of this generally illustrated atlas offers an in depth guide for strategies and methods in preimplantation genetic prognosis. New issues during this variation contain mutations, illnesses with genetic predisposition, and HLA typing. The e-book offers perception from authors who're pioneers in a few of the strategies described"--Provided Read more...

summary: "Based on one best center's adventure with over 100,000 circumstances, the hot variation of this largely illustrated atlas offers a close guide for methods and methods in preimplantation genetic analysis. New subject matters during this version comprise mutations, illnesses with genetic predisposition, and HLA typing. The booklet presents perception from authors who're pioneers in a number of the methods described"--Provided by way of writer

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A laser scanner is used to excite the hybridized fluorophores and to read and store the resulting images of hybridization, using the special software provided by BlueGnome. Chromosome profiles are examined for gain or loss, or for structural rearrangement. 31. This approach has opened the possibility of combining aneuploidy testing for 24 chromosomes with PGD for ­single-gene disorders and preimplantation HLA typing. The list of conditions for which this combined approach has been used in our center includes gangliosidosis GM1, isolated hypertrophic cardiomyopathy, cystic fibrosis, fragile X, neurofibromatosis type 1, Niemann–Pick disease, congenital gangliosidosis, Huntington, and chronic granulomatous disease, to mention only a few (see Chapter 6 for the list of 55 conditions tested).

However, the follow-up testing of these embryos at the cleavage stage demonstrated subsequent errors in mitotic divisions in the resulting zygotes, leading to the development of chromosomally abnormal embryos that were unacceptable for embryo transfer. 34,35 All of the chromosomally normal embryos appeared to result from zygotes with only one chromosomal error rescue, with none resulting from the zygotes balanced for two chromosomes. The fact that only a few resulting embryos (11%) were abnormal for the same chromosome for which sequential meiosis I and meiosis II led to the balanced set may suggest that the observed sequential errors in female meiosis may be attributable to a meiotic apparatus abnormality overall, rather than to a single-chromosome segregation defect, and further may lead to a general defect in the mitotic apparatus of the resulting embryos.

2 Materials for fluorescence in situ hybridization (FISH) analysis of polar body, blastomere, and trophectoderm biopsy Materials and reagents Supplier Catalog number Microscope (25 x 75 x 1-mm) frosted precleaned slides Fisher 12-550-14 Drummond 1–5 µl pipettes Fisher 21-176-2A Drummond 25–50 µl pipettes Fisher 2I-I76-2D 5 3/4-inch Pasteur pipettes Fisher 13-678-20A 35 x 10-mm Petri dishes (Falcon 1008) Fisher 08-757-100A 50-ml culture flask (Falcon 353014) Fisher 10-126-1B Coplin jars (12) Fisher 08-817 4 glass dishes with removable tray Fisher 08-812 Hanging drop slides Fisher 12-560 Carbide marker for engraving glass Fisher 13-378 22 x 30-mm coverslips (Corning) Fisher 12-531A Microcentrifuge tubes Midwest Scientific TT05B Forceps (fine tip) Fisher 08-953E Parafilm Fisher 13-374-10 Sigma A-51 77 Fisher 14-085 Graduated cylinders and serological pipettes Mouthpiece with tubing to hold micropipette Lead pencil and fine point permanent marker Rubber bulb for blow-drying The procedure for preparation of polar bodies is as follows: (1) Fixative (methanol and glacial acetic acid, 3:1) is prepared in a 50-ml culture flask on the day of fixation, and stored at ambient temperature.

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