Xq28 has been of special interest in human genetics because a large nu
mber of diseases map to this region, As a step in the molecular analys
is of the as yet uncloned disease genes, and as a test for the detaile
d analysis of larger regions of the genome, we have constructed YAC cl
one contigs covering the 7.5 Mb region between IDS to the telomere on
the long arm of the human X chromosome. Contigs were assembled and ver
ified by an integrated hybridization-based strategy. Data was combined
from the physical map, from YAC and cosmid mapping experiments, and f
rom the localization of specific transcripts in the region. Two gaps i
n the YAC map of 250 and 100 kb were covered in part by the aid of cos
mid clones, but small gaps of 50 kb each remain. The cloned region is
expected to contain yet unidentified genes for at least ten genetic di
seases. The construction of ordered YAC clone contigs of Xq28 represen
ts an important step in the molecular identification of these genes, a
nd the further analysis of one of the genetically most interesting reg
ions of the human genome.