期刊
REPRODUCTIVE BIOMEDICINE ONLINE
卷 20, 期 4, 页码 470-476出版社
REPRODUCTIVE HEALTHCARE LTD
DOI: 10.1016/j.rbmo.2010.01.006
关键词
haplotype analysis; monogenic disease; PGD; PGH; whole genome amplification
资金
- Guy's and St. Thomas' Charity
- Evelina Children's Hospital
- Dystrophic Epidermolysis Bullosa Research Association (DebRA UK)
Preimplantation genetic diagnosis using whole genome amplification and a haplotyping approach (PGH) was first described in 2006 and suggested as an efficient alternative to single-cell PCR for monogenic disorders. DNA from single cells was amplified using multiple displacement amplification; the resulting products were then tested using disease-specific PCR multiplexes applied under standard laboratory conditions to determine the haplotypes in the embryo. This study reports on a total of 127 completed biopsy cycles for 101 couples at risk of: autosomal recessive disease (71 cycles, 53 couples including one germ-line mosaic carrier), autosomal dominant disease (31 cycles, 26 couples including one germ-line mosaic carrier), X-linked recessive disease (18 cycles, 16 couples including one germ-line mosaic carrier), X-linked dominant disease (six cycles, five couples) and a double inheritance of both autosomal and X-linked recessive diseases (one cycle, one couple). Of these, 107 cycles reached embryo transfer. Overall success rates were: fetal heart beat-positive pregnancies (FHB+)/biopsy cycle = 28%; FHB+/embryo transfer = 34%; FHB+/couple = 36%; 26 babies born, 13 ongoing pregnancies. These data demonstrate that PGH provides a robust, efficient and successful alternative to single-cell PCR for monogenic diseases. (C) 2010, Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.
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