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Application of a target array Comparative Genomic Hybridization to prenatal diagnosis

Cited 21 time in Web of Science Cited 23 time in Scopus
Authors
Park, Ji Hyeon; Woo, Jung Hoon; Shim, Sung Han; Yang, Song-Ju; Yang, Kap-Seok; Cha, Dong Hyun; Choi, Young Min
Issue Date
2010-06-24
Publisher
BIOMED CENTRAL LTD
Citation
BMC MEDICAL GENETICS; Vol.11 ; -
Abstract
Background: While conventional G-banded karyotyping still remains a gold standard in prenatal genetic diagnoses, the widespread adoption of array Comparative Genomic Hybridization (array CGH) technology for postnatal genetic diagnoses has led to increasing interest in the use of this same technology for prenatal diagnosis. We have investigated the value of our own designed DNA chip as a prenatal diagnostic tool for detecting submicroscopic deletions/duplications and chromosome aneuploidies. Methods: We designed a target bacterial artificial chromosome (BAC)-based aCGH platform (MacArray (TM) M-chip), which specifically targets submicroscopic deletions/duplications for 26 known genetic syndromes of medical significance observed prenatally. To validate the DNA chip, we obtained genomic DNA from 132 reference materials generated from patients with 22 genetic diseases and 94 clinical amniocentesis samples obtained for karyotyping. Results: In the 132 reference materials, all known genomic alterations were successfully identified. In the 94 clinical samples that were also subjected to conventional karyotyping, three cases of balanced chromosomal aberrations were not detected by aCGH. However, we identified eight cases of microdeletions in the Yq11.23 chromosomal region that were not found by conventional karyotyping. This region harbors the DAZ gene, and deletions may lead to non-obstructive spermatogenesis. Conclusions: We have successfully designed and applied a BAC-based aCGH platform for prenatal diagnosis. This platform can be used in conjunction with conventional karyotyping and will provide rapid and accurate diagnoses for the targeted genomic regions while eliminating the need to interpret clinically-uncertain genomic regions.
ISSN
1471-2350
Language
English
URI
http://hdl.handle.net/10371/76806
DOI
https://doi.org/10.1186/1471-2350-11-102
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College of Medicine/School of Medicine (의과대학/대학원)Obstetrics & Gynecology (산부인과전공)Journal Papers (저널논문_산부인과학전공)
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