A Deletion Map of the Human Y Chromosome Based on DNA Hybridization

Abstract

The genomes of 27 individuals (19 XX males, two XX hermaphrodites, and six persons with microscopically detectable anomalies of the Y chromosome) were analyzed by hybridization for the presence or absence of 23 Y-specific DNA restriction fragments. Y-specific DNA was detected in 12 of the XX males and in all six individuals with microscopic anomalies. The results are consistent with each of these individuals carrying a single contiguous portion of the Y chromosome; that is, the results suggest a deletion map of the Y chromosome, in which each of the 23 Y-specific restriction fragments tested can be assigned to one of seven intervals. We have established the polarity of this map with respect to the long and short arms of the Y chromosome. On the short arm, there is a large cluster of sequences homologous to the X chromosome. The testis determinant(s) map to one of the intervals on the short arm.

DNA analysis of two patients with a non-fluorescent y chromosome

“…He concluded that, if the gonadoblastoma locus exists, it is within the region defined by interval 4B-7 which extends from centromere to the distal end of long arm (Page, 1987;Vergnaud et al, 1986). Lukusa et al reported that except for a few cases among individuals with dysgenetic gonad, gonadoblastoma was not found in patients with a karyotype 45,X/46,X,Ynf (Lukusa et al, 1986).…”

PCR detection of structurally abnormal Y chromosomes

“…The fragment was subcloned into the pUC18 vector digested with these 2 enzymes. The 49f probe was originally described by Vergnaud et al (1986) and a gift from Dr. J. Weissenbach.…”

DNA analysis of a patient with two different marker chromosomes using Y-specific DNA probes

“…et al, 1986). The remaining six probes were gifts from Dr. J. Weissenbach (probes 47z, 52d, 50f2, 12f3, and 49f; Vergnaud et al, 1986) and a gift from Dr. D. C. Page (probe pDP1007(ZFY); Page et al, 1987). Probe 50f2 detects five different loci (50f2A to 50f2E) on the Y chromosome (see Fig.…”