Isolation of a Y chromosomal DNA sequence and its clinical application

A 4.6 kb long, Y-specific DNA fragment was isolated from a flow-sorted human Y chromosomal library, and its male specificity was confirmed by Southern blot analysis. The fragment, designated as pY-80, was proven with an in situ hybridization experiment to have originated from the Yp11.2-Ypter region. Its 2,808 bp section was sequenced. The polymerase chain reaction proceeded with oligonucleotides flanking a 666 bp PstI-EcoRI fragment of the sequence as primers and a male genomic DNA as a template, but not with a female genomic DNA. Preliminary tests of samples of various sources successfully detected the Y-specific fragment in male-derived samples, including mouth wash, single hair roots, urinary epithelial cells, dried blood spots and amniotic fluid cells.