Telomere lengths at birth in trisomies 18 and 21 measured by Q-FISH |
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Authors: | Ken-ichi Nakamura Naoshi Ishikawa Naotaka Izumiyama Junko Aida Mie Kuroiwa Naoki Hiraishi Mutsunori Fujiwara Atsushi Nakao Tadashi Kawakami Steven SS Poon Masaaki Matsuura Motoji Sawabe Tomio Arai Kaiyo Takubo |
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Institution: | 1. Research Team for Geriatric Pathology, Tokyo Metropolitan Institute of Gerontology, Tokyo, Japan;2. Department of Pathophysiology, Yokohama College of Pharmacy, Yokohama 245-0066, Japan;3. Department of Laboratory Medicine, Hadano Red Cross Hospital, Hadano, Kanagawaken 257-0017, Japan;4. Department of Pathology and Laboratory Medicine, Japanese Red Cross Medical Center, Tokyo, Japan;5. Department of Neonatal Medicine, Japanese Red Cross Medical Center, Tokyo, Japan;6. Terry Fox Laboratory, British Columbia Cancer Research Centre, Vancouver, BC, Canada;g Bioinformatics Group, Genome Center and Department of Cancer Genomics, The Cancer Institute, The Japanese Foundation for Cancer Research, Tokyo 135-8550, Japan;h Department of Pathology, Tokyo Metropolitan Geriatric Hospital, Tokyo 173-0015, Japan |
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Abstract: | Trisomies 18 and 21 are genetic disorders in which cells possess an extra copy of each of the relevant chromosomes. Individuals with these disorders who survive birth generally have a shortened life expectancy. As telomeres are known to play an important role in the maintenance of genomic integrity by protecting the chromosomal ends, we conducted a study to determine whether there are differences in telomere length at birth between individuals with trisomy and diploidy, and between trisomic chromosomes and normal chromosomes. We examined samples of peripheral blood lymphocytes (PBLs) from 31 live neonates (diploidy: 10, trisomy 18: 10, trisomy 21: 11) and estimated the telomere length of each chromosome arm using Q-FISH. We observed that the telomeres of trisomic chromosomes were neither shorter nor longer than the mean telomere length of chromosomes as a whole among subjects with trisomies 18 and 21 (intra-cell comparison), and we were unable to conclude that there were differences in telomere length between 18 trisomy and diploid subjects, or between 21 trisomy and diploid subjects (inter-individual comparison). Although it has been reported that telomeres are shorter in older individuals with trisomy 21 and show accelerated telomere shortening with age, our data suggest that patients with trisomies 18 and 21 may have comparably sized telomeres. Therefore, it would be advisable for them to avoid lifestyle habits and characteristics such as obesity, cigarette smoking, chronic stress, and alcohol intake, which lead to marked telomere shortening. |
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Keywords: | PBL peripheral blood lymphocyte Q-FISH quantitative fluorescence in situ hybridization TFU telomere fluorescence unit PDL population doubling level TRF terminal restriction fragment PNA peptide nucleic acid Telo C Cy3-labeled (CCCTAA)3 peptide nucleic acid probe CENP1 FITC-labeled CTTCGTTGGAAACGGGGT peptide nucleic acid probe DAPI 4&prime 6-diamidino-2-phenylindole kbp kilobase pairs |
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