Application of a target array Comparative Genomic Hybridization to prenatal diagnosis

BMC Medical Genetics

Research Article

Kap-Seok Yang¹  Jung Hoon Woo¹  Song-Ju Yang¹  Ji Hyeon Park²  Dong Hyun Cha³  Young Min Choi⁴  Sung Han Shim⁵ 

[1] Department of Bio Chip Service, Macrogen Inc, Seoul, South Korea;Department of Obstetrics and Gynecology, CHA Bundang Medical Center, CHA University, Seongnam-si, South Korea;Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University, Seoul, Republic of Korea, Seoul, South Korea;Department of of Obstetrics and Gynecology, Seoul National University College of Medicine, Seoul, South Korea;Genetic Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, South Korea;

关键词: Bacterial Artificial Chromosome;    Bacterial Artificial Chromosome Clone;    Chromosome Aneuploidy;    Quantitative Fluorescent Polymerase Chain Reaction;    Kallmann Syndrome;   

DOI  :  10.1186/1471-2350-11-102

 received in 2009-09-14, accepted in 2010-06-24,  发布年份 2010

来源: Springer

【 摘 要 】

BackgroundWhile 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.MethodsWe designed a target bacterial artificial chromosome (BAC)-based aCGH platform (MacArray™ 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.ResultsIn 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.ConclusionsWe 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.

【 授权许可】

Unknown   
© Park et al; licensee BioMed Central Ltd. 2010. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.