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
;
: 794-799, 2006.
Article
in English
| WPRIM
| ID: wpr-14647
ABSTRACT
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' genomic DNA samples with a referred PCR primer set. Upon further analysis with a re-designed primer set, we found a novel single nucleotide polymorphism (SNP) at the referred primer-binding site in the normal allele of HADHA gene (NT_022184, 5233296 a>t). We found that the frequency of this novel SNP was 0.064 in Korean population. Pre-diagnostic test using single lymphocytes and clinical PGD were successfully performed with the re-designed primer set. Nineteen embryos (95.0%) among 20 were successfully diagnosed to 5 homozygous mutated, 8 heterozygous carrier and 6 wild type. Among 6 normal embryos, well developed and selected 4 embryos were transferred into the mother's uterus, but a pregnancy was not achieved. We proposed that an unknown SNP at primer-binding sites would be a major cause of allele drop-out in the PGD for single gene dis-order.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Binding Sites
/
Polymerase Chain Reaction
/
Preimplantation Diagnosis
/
Polymorphism, Single Nucleotide
/
3-Hydroxyacyl CoA Dehydrogenases
/
Multienzyme Complexes
/
Mutation
Type of study:
Diagnostic study
Limits:
Adult
/
Female
/
Humans
/
Male
Language:
English
Journal:
Journal of Korean Medical Science
Year:
2006
Type:
Article
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