Construction, analysis, and application to 46,XY gonadal dysgenesis of a recombinant phage DNA library from flow-sorted human Y chromosomes.
The analysis of a recombinant human Y-enriched Hind III total digest phage library prepared from the DNA of flow sorted human Y chromosomes is described. Out of 43 phage inserts from the library thus far mapped, 25 revealed hybridization with Y chromosomal DNA. These inserts may be divided into five groups according to their degree of Y specific hybridization: inserts that hybridize with one single copy or slightly repeated Y-specific DNA sequence, Y-specific repeated sequences of various restriction fragment lengths, Y-chromosomal DNA sequence(s) shared by a sequence on the X and/or on autosomes, Y-specific DNA sequences in addition to multiple X and/or autosomal sequences, or Y-specific repeated DNA in addition to multiple X and/or autosomal sequences. Application of probes from this library for diagnostic purposes is shown in two 46,XY patients with gonadal dysgenesis and small deletions of the Y short arm.
D003001:Cloning, Molecular / Q000379:methods; D003090:Coliphages / Q000235:genetics; D004262:DNA Restriction Enzymes; D004274:DNA, Recombinant / Q000032:analysis*; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005434:Flow Cytometry; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D009693:Nucleic Acid Hybridization; D014998:Y Chromosome / Q000032:analysis*
D004274:DNA, Recombinant; D004262:DNA Restriction Enzymes