Carcinogenesis, Teratogenesis & Mutagenesis ›› 2001, Vol. 13 ›› Issue (4): 206-207.doi: 10.3969/j.issn.1004-616x.2001.04.003

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Chromosomal instability in B-lymphoblasotoid cell lines from Werner's and Bloom's syndrome patients

Masamitsu Honma1,etal   

  1. 1. Division of Genetics and Mutagenesis, National Institute of Health Sciences, 1-18-1 Kamiyoga, Setagaya-ku, Tokyo 158-8501, Japan.2.AGENER esearch Institute, 200 Kajiwara, Kamakura. Kanagawa 247-0063, Japan. 3. O lympus Chromosome Research Center. 223 Kuboyama-cho, Hachioji2shi, Tokyo 19228512, Japan
  • Received:1900-01-01 Revised:1900-01-01 Online:2001-10-30 Published:2001-10-30

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Abstract: Werner’s syndrome (W S) and Bloom 's syndrome (BS) are rareau to som al recessive diseases in w h ich the featu re of premature aging and the elevated risk of neop lasia m ay be associated w ith genom ic in stab ility. To cha2 racterize the genom ic in stab ility ofW S and BS, B2lymphob lasto id cell lines (LCL s) f rom W Sand BS patients were cytogenet ically analyzed, comparing to tho sefrom healthy dono rs. A lthough allW S2LCL s exh ib ited sim i2 lar f requencies of spon taneou s m icronuclei (MN ) and sister ch rom at id exchange (SCE ) to the LCL s from healthy dono rs, BS2LCL s show ed ex t rao rdinarily h igh f requencies of MN as w ell as SCE. The cyto tox ic re2 spon se andMN induct ion to fou r chem icals, camp to thecin (CAM ) , etopo side (ETO ) , 42n it ro2qu ino line212ox de (4NQO ) , and m itom ycin C (MMC) w ere also exam ined. W S2LCL s did no t show any sign if ican t sen sit ivity in cyto tox icity andMN induct ion to all chem icals comparing to healthy dono r’s LCL s. BS2LCL s, on the o ther hand, tend to be cyto tox ic resistan t and sen sit ive toMN induct ion to 4NQO andMMC. Spect rum karyo typ ing (SKY) analysis revealed that almo stW S2and BS2LCL s generate“variegated t ran slocat ion mo saicism ”(V TM ) at h igh f requencies du ring cell cu ltu re. These f indings indicate that bo thW S and BS are ch romo som e un stab le syndrom es, bu t their characterist ics of genet ic in stab ility are to tally dist inct.