Article
Identification of a novel single nucleotide polymorphism of HADHA gene at a referred primer-binding site during pre-diagnostic tests for preimplantation genetic diagnosis.
Journal of Korean medical science - 1 Oct 2006
Lee Hyoung-Song, Choi Hye Won, Lim Chun Kyu, Koong Mi Kyoung, Kang Inn Soo, Yoo Han-Wook, Choi Jin-Ho, Jun Jin Hyun
Abstract excerpt
The pre-diagnostic test for preimplantation genetic diagnosis (PGD) of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency was performed by polymerase chain reaction (PCR) and direct sequencing for hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (HADHA) gene. We obtained unexpected genotyping results of HADHA gene by allele drop-out in the analysis of patients'...
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