PMID: 7545043Aug 26, 1995Paper

Optimal polymerase chain reaction amplification for preimplantation diagnosis in cystic fibrosis (delta F508)

BMJ : British Medical Journal
K H CuiC D Matthews

Abstract

To evaluate direct polymerase chain reaction amplification of mutation on single embryo cells for the routine preimplantation diagnosis of cystic fibrosis. Direct polymerase chain reaction amplification of mutation was performed to identify the cystic fibrosis delta F508 mutation in human blood DNA, single lymphocytes, embryos, and embryo cells obtained by biopsy. Preimplantation diagnosis was performed for a couple who were heterozygous carriers of the delta F508 mutation. Laboratory for preimplantation diagnosis in a reproductive medicine unit. Correct diagnosis of homozygous normal, heterozygous, and homozygous abnormal DNA of the cystic fibrosis delta F508 mutation. 45 blood samples (18 homozygous normal, 17 heterozygous, and 10 homozygous abnormal) and 204 single lymphocytes from known sources showed 100% amplification and were diagnosed correctly. 17 human embryos and 52 normal nucleated embryo cells obtained by single cell embryo biopsy also showed 100% amplification. After a miscarriage of the initial pregnancy (diagnosed at preimplantation to be homozygous normal) in the heterozygous carrier couple, fetal tissue was confirmed to be homozygous normal. Direct polymerase chain reaction amplification of mutation is a simpl...Continue Reading

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Citations

Aug 26, 1995·BMJ : British Medical Journal·J A Raeburn

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