PMID- 16980714 OWN - NLM STAT- MEDLINE DCOM- 20061219 LR - 20220223 IS - 1340-2838 (Print) IS - 1340-2838 (Linking) VI - 13 IP - 3 DP - 2006 Jun 30 TI - Genomic instability of the DYZ1 repeat in patients with Y chromosome anomalies and males exposed to natural background radiation. PG - 103-9 AB - We assessed genomic instability of 3.4 kb DYZ1 repeat arrays in patients encompassing prostate cancer (PC), cases of repeated abortion (RA) and males exposed to natural background radiation (NBR) using real-time PCR and fluorescence in situ hybridization (FISH). Normal males showed DYZ1 copies ranging from 3000 to 4300, RA, 0-2237; PC, 550; and males exposed to NBR, 1577-5700. FISH showed organizational variation of DYZ1 in these samples substantiating the data obtained from real-time PCR. Of the 10 RA samples, 7 were found to be affected of which, 5 showed deletion of 265 bp from nt 25 to 290 and 773 bp from 1347 to 2119 and 2 showed deletion of 275 bp from nt 3128 to 3402. Copy number variation of DYZ1 in these males correlated with genetic constrains/anomalies. Although precise mechanisms of genomic instability of DYZ1 remains unclear, we construe that this repeat plays a critical role in maintaining the structural integrity of the Y chromosome, possibly by absorbing the load of mutations. This may be used as a marker system to analyze genetic integrity of the DYZ1 repeat array(s) across the spectrum of patients. FAU - Pathak, Deepali AU - Pathak D AD - Molecular Genetics Laboratory, National Institute of Immunology Aruna Asaf Ali Marg, New Delhi 11 0067, India. FAU - Premi, Sanjay AU - Premi S FAU - Srivastava, Jyoti AU - Srivastava J FAU - Chandy, Sebastian Padinjarel AU - Chandy SP FAU - Ali, Sher AU - Ali S LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20060916 PL - England TA - DNA Res JT - DNA research : an international journal for rapid publication of reports on genes and genomes JID - 9423827 SB - IM MH - Abortion, Induced MH - Background Radiation MH - *Chromosome Aberrations MH - *Chromosomes, Human, Y MH - Female MH - Gene Dosage MH - *Genomic Instability MH - Humans MH - In Situ Hybridization, Fluorescence MH - Male MH - Polymerase Chain Reaction MH - Prostatic Neoplasms/diagnosis/genetics MH - *Repetitive Sequences, Nucleic Acid EDAT- 2006/09/19 09:00 MHDA- 2006/12/21 09:00 CRDT- 2006/09/19 09:00 PHST- 2006/09/19 09:00 [pubmed] PHST- 2006/12/21 09:00 [medline] PHST- 2006/09/19 09:00 [entrez] AID - dsl002 [pii] AID - 10.1093/dnares/dsl002 [doi] PST - ppublish SO - DNA Res. 2006 Jun 30;13(3):103-9. doi: 10.1093/dnares/dsl002. Epub 2006 Sep 16.