Use of repetitive DNA for diagnosis of chromosomal rearrangements

✍ Scribed by R. D. Burk; Judith Stamberg; K. E. Young; K. D. Smith

• Book ID: 104707985
• Publisher: Springer
• Year: 1983
• Tongue: English
• Weight: 676 KB
• Volume: 64
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/bf00292365

✦ Synopsis

We have used two repeated DNA fragments (3.4 and 2.1 kb) released from Y chromosome DNA by digestion with the restriction endonuclease Hae III to analyze potential Y chromosome/autosome translocations. Two female patients were studied who each had an abnormal chromosome 22 with extra quinacrine fluorescent material on the short arm. The origin of the 22p+ chromosomes was uncertain after standard cytologic examinations. Analysis of one patient's DNA with the Y-specific repeated DNA probes revealed the presence of both the 3.4 and 2.1kb Y-specific fragments. Thus, in this patient, the additional material was from the Y chromosome. Analysis of the second patient's DNA for Y-specific repeated DNA was negative, indicating that the extra chromosomal segment was not from the long arm of the Y chromosome. These two cases demonstrate that repeated DNA can distinguish between similar appearing aberrant chromosomes and may be useful in karyotypic and prenatal diagnosis.