Detection of DNA copy number changes in human endometriosis by comparative genomic hybridization

J Gogusev, Gogusev J, Jean Gogusev, J. Bouquet De Joliniere, J Bouquet de Jolinière, Bouquet de Jolinière J, L Telvi, Telvi L, Louise Telvi, Mireille Doussau, Doussau M, M Doussau, Stanislas du Manoir, S du Manoir, Alexandre Stojkoski, A Stojkoski, Stojkoski A, Levardon M, M Levardon
Human genetics · 1999 · vol. 105(5) , pp. 444–451 · doi:10.1007/s004390051129 · PMID:10598811 · W2077405130
article OA: closed CC0 ⤵ 59 in-corpus citations
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This study utilized comparative genomic hybridization to identify DNA copy number alterations in human endometriosis samples.

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Abstract

Endometriosis is characterized by infertility and pelvic pain in 10-15% of women of reproductive age. The genetic events involved in endometriotic cell expansion remain in large part unknown. To identify genomic changes involved in development of this disease, we examined a panel of 18 selected endometriotic tissues by comparative genomic hybridization (CGH), a molecular cytogenetic method that allows screening of the entire genome for chromosomal gains and/or losses. The study was performed on native, nonamplified DNA extracted from manually dissected endometriotic lesions. Recurrent copy number losses on several chromosomes were detected in 15 of 18 cases. Loss of chromosome 1p and 22q were detected in 50% of the cases. Additional common losses occurred on chromosomes 5p (33%), 6q (27%), 7p(22%), 9q (22%), 16 (22%) as well as on 17q in one case. Gain of DNA sequences were seen at 6q, 7q and 17q in three cases. To validate the CGH data, selective dual-color FISH was performed using probes for the deleted regions on chromosomes 1, 7 and 22 in parallel with the corresponding centromeric probes. Cases showing deletion by CGH all had two signals at 1p36, 7p22.1 and 22q12 in less than 30% of the nuclei in comparison to the double centromeric labels found in more than 85% of the cells. These findings indicate that genes localized to previously undescribed chromosomal regions play a role in development and progression of endometriosis.

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Condition tags

endometriosis

MeSH descriptors

Chromosome Aberrations DNA Endometriosis In Situ Hybridization, Fluorescence Chromosome Deletion Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 22 Chromosomes, Human, Pair 22 Chromosomes, Human, Pair 5 Chromosomes, Human, Pair 5 Chromosomes, Human, Pair 6 Chromosomes, Human, Pair 6 Chromosomes, Human, Pair 9 Chromosomes, Human, Pair 9 DNA Endometriosis Endometriosis

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References (42)

Cited by (50)

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