Multiplex PCR (MPCR) Screening Can Detect Small Intragenic XXXX Deletion and Insertion Mutations.

@entity876 @entity1 @entity43 @entity5
Mutations of the @entity876 @entity5 suppressor gene are the most common alterations associated with @entity5 identified so far. Inactivation of the @entity876 gene contributes to loss of a cell-cycle check point at the G1-S boundary and to genetic instability of the cell eventually allowing cells to replicate in an uncontrolled fashion (1). Inactivating @entity876 mutations have frequently been identified in many different forms of @entity5 including more than 50% of @entity43 (2,3). The type and location of @entity876 mutations occurring in @entity1 @entity5 are nonrandom. In a compilation of more than 4200 @entity876 mutations in @entity1 @entity5 by Soussi et al., 50% of the mutations were missense mutations, 37% frameshift mutations, and 13% nonsense mutations (4). Small intragenic deletions and insertions have gained little attention in the analyses of the @entity876 gene in @entity1 @entity5 (5,6). However, a review that compiled 740 @entity876 mutations from a wide variety of @entity5 showed that 10% of the mutations were either deletions or insertions (7). Insertions were mostly flanked by short direct repeats of up to 14 basepairs (bp). Deletions of up to 37 bp often occurred in areas of sequence repeats. Such structural changes may be explained by a slipped mispairing mechanism during DNA replication (7).
