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Author Nakabayashi, Akira ♦ Sueoka, Kou ♦ Tajima, Hiroto ♦ Sato, Kenji ♦ Sakamoto, Yoshiaki ♦ Katou, Shingo ♦ Yoshimura, Yasunori
Source World Health Organization (WHO)-Global Index Medicus
Content type Text
Publisher Springer
File Format HTM / HTML
Language English
Difficulty Level Medium
Subject Domain (in DDC) Natural sciences & mathematics ♦ Life sciences; biology ♦ Physiology & related subjects ♦ Biochemistry ♦ Genetics and evolution ♦ Natural history of organisms ♦ Technology ♦ Medicine & health ♦ Human anatomy, cytology, histology ♦ Human physiology ♦ Diseases ♦ Gynecology, obstetrics, pediatrics & geriatrics ♦ Manufacture for specific uses ♦ Precision instruments & other devices
Subject Domain (in MeSH) Cells ♦ Anatomy ♦ Eukaryota ♦ Organisms ♦ Musculoskeletal Diseases ♦ Diseases ♦ Diagnosis ♦ Investigative Techniques ♦ Analytical, Diagnostic and Therapeutic Techniques and Equipment ♦ Genetic Phenomena ♦ Biological Sciences ♦ Persons ♦ Persons
Subject Keyword Discipline Reproductive Medicine ♦ Discipline Genectics ♦ Gene Duplication ♦ Muscular Dystrophy, Duchenne ♦ Diagnosis ♦ Genetics ♦ Preimplantation Diagnosis ♦ Methods ♦ Adult ♦ Chromosomes, Human, X ♦ False Negative Reactions ♦ Female ♦ Gene Dosage ♦ Humans ♦ Male ♦ Research Design ♦ Reverse Transcriptase Polymerase Chain Reaction ♦ Comparative Study ♦ Evaluation Studies ♦ Journal Article
Abstract PURPOSE: Preimplantation genetic diagnosis (PGD) has been performed for deletion and point mutation type of Duchenne muscular dystrophy (DMD). Our aim was to develop a PGD technique, not yet established, to directly detect duplication mutation instead of substitute diagnosis similar to gender determination. METHODS: Our method is based on comparative quantification using conventional duplex PCR, real-time PCR and gender determination. We evaluated this method in single lymphocytes from a duplication type of DMD patient and a normal male. RESULTS: There was a significant difference in the mean values of the ratios (the mutation locus/a normal reference): mean value +/- SE was 1.84 +/- 0.15 in the duplication patient, and 1.00 +/- 0.09 in the normal male (p < 0.001). CONCLUSION: It is suggested that our comparative quantification method could be a new option in PGD for carriers with duplication mutation who wish to have an unaffected son.
Description Country affiliation: Japan
Author Affiliation: Nakabayashi A ( Department of Obstetrics and Gynecology, Keio University School of Medicine, 35 Shinanomachi Shinjuku-ku, Tokyo 160-8582, Japan. akira-na@kanagawa.saiseikai.or.jp)
ISSN 10580468
Educational Role Student ♦ Teacher
Age Range above 22 year
Educational Use Reading ♦ Research ♦ Self Learning
Interactivity Type Expositive
Education Level UG and PG
Learning Resource Type Article
Publisher Date 2007-06-01
Publisher Place Netherlands
e-ISSN 15737330
Journal Journal of Assisted Reproduction and Genetics
Volume Number 24
Issue Number 6


Source: WHO-Global Index Medicus