Use of Variable Number of Tandem Repeat (VNTR) Sequences for Monitoring Chromosomal Instability

Publisher Summary This chapter discusses the monitoring of chromosomal instability by using variable number of tandem repeat (VNTR) sequences. Highly dispersed VNTR families may be useful in assaying the genetic stability of cellular lineages, especially neoplastic ones. The possibility that these sequences are themselves involved in rearrangements that drive the neoplastic process should be considered. Such a possibility could explain the persistent generation of translocations, rearrangements, and deletions commonly seen in solid tumors. Some cytogenetic changes that appear to represent nondisjunctive changes in the number of copies of normal chromosomes are difficult to envision in this way. The data present in the chapter also suggest that fingerprinting may offer the detection of gross chromosomal changes that are not obvious on conventional cytogenetic inspection. Loss of heterozygosity could be extremely important in the neoplastic process, as it could result in the expression of recessive genes such as mutated tumor suppressor genes. The use of VNTR probes would appear to be an ideal way to follow such phenomena, especially if large chromosomal pieces or whole chromosomes are involved.