PMID- 22772461 OWN - NLM STAT- MEDLINE DCOM- 20121025 LR - 20120806 IS - 1879-0038 (Electronic) IS - 0378-1119 (Linking) VI - 506 IP - 1 DP - 2012 Sep 10 TI - Increased TERC gene copy number in amniocytes from fetuses with trisomy 18 or a sex chromosome aneuploidy. PG - 46-9 LID - 10.1016/j.gene.2012.06.072 [doi] AB - OBJECTIVE: Individuals with chromosomal aneuploidies tend to develop malignancies. Telomerase is an enzyme complex that lengthens telomeres and has enhanced expression in numerous malignancies; one of its components is encoded by the TERC gene. In this study, we evaluated the TERC gene copy number in amniocytes from fetuses with aneuploidy, other than trisomy-21. METHODS: In this prospective, basic research study, fluorescence in situ hybridization (FISH) for the TERC gene (3q26) was applied to amniocytes retrieved from 14 fetuses with various aneuploidies and from a control group of 6 fetuses with a normal karyotype, to determine the TERC gene copy number. RESULTS: The percentage of cells with more than two copies of the TERC gene was lowest in the control group (x3=1.2 +/- 0.4%; x4=0 +/- 0%), higher in the sex chromosome aneuploidies (x3=4 +/- 3%; x4=0.7 +/- 0.95%) and even higher in trisomy 18 (x3=10.6 +/- 2.3; x4=4.6 +/- 1.8). The differences were statistically significant (P<0.05). CONCLUSION: The TERC gene copy number is increased in aneuploid amniocytes, which demonstrates their genetic instability and is presumably related to their tendency to develop malignancies. CI - Copyright (c) 2012. Published by Elsevier B.V. FAU - Biron-Shental, Tal AU - Biron-Shental T AD - Department of Obstetrics and Gynecology, Meir Medical Center, Kfar Saba, Israel. FAU - Kitay-Cohen, Yona AU - Kitay-Cohen Y FAU - Tene, Tamar AU - Tene T FAU - Sharony, Reuven AU - Sharony R FAU - Amiel, Aliza AU - Amiel A LA - eng PT - Journal Article DEP - 20120705 PL - Netherlands TA - Gene JT - Gene JID - 7706761 RN - 0 (telomerase RNA) RN - 63231-63-0 (RNA) RN - EC 2.7.7.49 (Telomerase) SB - IM MH - Amniotic Fluid/cytology/metabolism MH - *Aneuploidy MH - Case-Control Studies MH - *Chromosomes, Human, Pair 18 MH - *Chromosomes, Human, X MH - *Chromosomes, Human, Y MH - Female MH - Fetus/metabolism MH - Gene Dosage MH - Genomic Instability MH - Humans MH - In Situ Hybridization, Fluorescence MH - Male MH - Pregnancy MH - Prospective Studies MH - RNA/*genetics MH - *Sex Chromosome Aberrations MH - Telomerase/*genetics MH - *Trisomy EDAT- 2012/07/10 06:00 MHDA- 2012/10/26 06:00 CRDT- 2012/07/10 06:00 PHST- 2012/02/29 00:00 [received] PHST- 2012/06/19 00:00 [revised] PHST- 2012/06/21 00:00 [accepted] PHST- 2012/07/10 06:00 [entrez] PHST- 2012/07/10 06:00 [pubmed] PHST- 2012/10/26 06:00 [medline] AID - S0378-1119(12)00782-2 [pii] AID - 10.1016/j.gene.2012.06.072 [doi] PST - ppublish SO - Gene. 2012 Sep 10;506(1):46-9. doi: 10.1016/j.gene.2012.06.072. Epub 2012 Jul 5.