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KMID : 1033620130400010042
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Clinical and Experimental Reproductive Medicine
2013 Volume.40 No. 1 p.42 ~ p.46
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Successful birth with preimplantation genetic diagnosis using single-cell allele-specific PCR and sequencing in a woman with hypochondroplasia due to FGFR3 mutation (c.1620C>A, p.N540K)
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Park Kyung-Eui
Kim Sung-Ah
Kang Moon-Joo
Kim Hee-Sun
Cho Sung-Im
Yoo Kyoung-Won
Kim So-Yeon
Lee Hye-Jun
Oh Sun-Kyung
Seong Moon-Woo
Ku Seung-Yup
Jun Jong-Kwan
Park Sung-Sup
Choi Young-Min
Moon Shin-Yong
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Abstract
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Hypochondroplasia (HCH) is an autosomal dominant inherited skeletal dysplasia, usually caused by a heterozygous mutation in the fibroblast growth factor receptor 3 gene (FGFR3). A 27-year-old HCH woman with a history of two consecutive abortions of HCH-affected fetuses visited our clinic for preimplantation genetic diagnosis (PGD). We confirmed the mutation in the proband (FGFR3:c.1620C>A, p.N540K), and established a nested allele-specific PCR and sequence analysis for PGD using single lymphocyte cells. We performed this molecular genetic analysis to detect the presence of mutation among 20 blastomeres from 18 different embryos, and selected 9 embryos with the wild-type sequence (FGFR3:c.1620C). A successful pregnancy was achieved through a frozen-thawed cycle and resulted in the full-term birth of a normal neonate. To the best of our knowledge, this is the first report of a successful pregnancy and birth using single-cell allele-specific PCR and sequencing for PGD in an HCH patient.
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KEYWORD
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Hypochondroplasia, Preimplantation genetic diagnosis, Receptor, fibroblast growth factor, type 3
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