Construction, analysis, and application to 46,XY gonadal dysgenesis of a recombinant phage DNA library from flow‐sorted human Y chromosomes

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Abstract
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 1) one single copy or slightly repeated Y‐specific DNA sequence, 2) Y‐specific repeated sequences of various restriction fragment lengths, 3) Y‐chromosomal DNA sequence(s) shared by a sequence on the X and/or on autosomes, 4) Y‐specific DNA sequences in addition to multiple X and/or autosomal sequences, or 5) 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.