Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions

Wei Yu; Blake C Ballif; Catherine D Kashork; Heidi A Heilstedt; Leslie A Howard; Wei-Wen Cai; Lisa D White; Wenbin Liu; Arthur L Beaudet; Bassem A Bejjani; Chad A Shaw; Lisa G Shaffer

doi:10.1093/hmg/ddg230

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Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions

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Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions

Wei Yu, Blake C Ballif, Catherine D Kashork, Heidi A Heilstedt, Leslie A Howard, Wei-Wen Cai, Lisa D White, Wenbin Liu, Arthur L Beaudet, Bassem A Bejjani, …

Human molecular genetics, Vol.12(17), pp.2145-2152

09/01/2003

DOI: https://doi.org/10.1093/hmg/ddg230

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https://hdl.handle.net/2376/110230

PMID: 12915473

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Abstract

Chromosome Deletion

Nucleic Acid Hybridization

Reproducibility of Results

Oligonucleotide Array Sequence Analysis - methods

Humans

In Situ Hybridization, Fluorescence

Karyotyping

Sensitivity and Specificity

Chromosome Aberrations

Chromosome Disorders - diagnosis

Chromosomes, Human, Pair 1 - genetics

Genome, Human

Chromosome Disorders - genetics

Microsatellite Repeats

Telomere - genetics

Chromosomal abnormalities, such as deletions and duplications, are characterized by specific and often complex phenotypes resulting from an imbalance in normal gene dosage. However, routine chromosome banding is not sensitive enough to detect subtle chromosome aberrations (<5-10 Mb). Array-based comparative genomic hybridization (array CGH) is a powerful new technology capable of identifying chromosomal imbalance at a high resolution by co-hybridizing differentially labeled test and control DNAs to a microarray of genomic clones. We used a previously assembled contig of large-insert clones that span 10.5 Mb of the most distal region of 1p36 to design a microarray. The array includes 97 clones from 1p36, 41 clones from the subtelomeric regions of all human chromosomes, and three clones from each of the X and Y chromosomes. We used this microarray to study 25 subjects with well-characterized deletions of 1p36. All array CGH results agree with the deletion sizes and locations of the breakpoints in these subjects as determined previously by FISH and microsatellite analyses. Terminal deletions, interstitial deletions, derivative chromosomes and complex rearrangements were also identified. We anticipate that array CGH will change the diagnostic approach to many congenital and acquired genetic diseases such as mental retardation, birth defects and cancer.

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Title: Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions
Creators: Wei Yu - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Blake C Ballif
Catherine D Kashork
Heidi A Heilstedt
Leslie A Howard
Wei-Wen Cai
Lisa D White
Wenbin Liu
Arthur L Beaudet
Bassem A Bejjani
Chad A Shaw
Lisa G Shaffer
Publication Details: Human molecular genetics, Vol.12(17), pp.2145-2152
Academic Unit: Center for Reproductive Biology; Medical Education and Clinical Science, Department of
Publisher: England
Grant note: P01 HD39420 / NICHD NIH HHS P30 HD24064 / NICHD NIH HHS K08 DC00169 / NIDCD NIH HHS
Identifiers: 99900547175801842
Language: English
Resource Type: Journal article