TELOMERIC ASSOCIATIONS INVOLVING YQ12 IN A LYMPHOBLASTOID CELL-LINE

A number of apparent telomeric associations/fusions (TAs) involving Yq12 were observed in a lymphoblastoid cell line (GM6892A) established from a fragile-X-negative, phenotypically normal male with the fragile X gene mutation. The TAs were seen when these cells were grown for an extended period of time in medium 199, which is deficient in thymidine and folic acid. Because the low thymidine and folic acid condition of medium 199 is known to induce chromosome and chromatid gaps and breaks at folate-sensitive fragile sites, other fragile site-induction regimes were examined to determine if the TAs seen in GM6892A were due to a fragile site in the Yq12 band. No TAs were seen with any of the other regimes that were tried.