The Human Y Chromosome: A 43-Interval Map Based on Naturally Occurring Deletions

Abstract

A deletion map of the human Y chromosome was constructed by testing 96 individuals with partial Y chromosomes for the presence or absence of many DNA loci. The individuals studied included XX males, XY females, and persons in whom chromosome banding had revealed translocated, deleted, isodicentric, or ring Y chromosomes. Most of the 132 Y chromosomal loci mapped were sequence-tagged sites, detected by means of the polymerase chain reaction. These studies resolved the euchromatic region (short arm, centromere, and proximal long arm) of the Y chromosome into 43 ordered intervals, all defined by naturally occurring chromosomal breakpoints and averaging less than 800 kilobases in length. This deletion map should be useful in identifying Y chromosomal genes, in exploring the origin of chromosomal disorders, and in tracing the evolution of the Y chromosome.

Multiplex Sequence-Tagged Site PCR for Efficient Screening of Microdeletions in Y Chromosome in Infertile Males with Azoospermia or Severe Oligozoospermia

“…The compositions of the STSs and the size of their base pairs for each of the multiplex primers are shown in Table 1. These STSs were derived from the map by Vollrath et al [22], Henegariu et al [4], Reijo et al [16], and Kent-First et al [6]. The primer pairs in a multiplex di ered at least 22 base pairs in length from each other to make the screening easier and more e cient.…”

“…Before the ®rst cycle, all samples were incubated for 5 min at 95¯C. If a product of the expected size was not obtained, the PCR was performed under the conditions derived from the literature [4,6,16,22] using a single pair of primers. Patients were considered normal if the PCR product was of the expected size and negative…”

“…Moreover, a microdeletion was detected in the patients with oligo/azoospermia but with a cytogenetically normal Yq [4]. After a sequence-tagged site (STS)-based mapping strategy had been devised [7,22], a relatively high prevalence of microdeletions in Yq were reported [12,15]. These microdeletions were found chie¯y in the AZFa, AZFb, or AZFc subregions of AZF.…”

Screening for deletions in interval D16–22 of the Y chromosome in azoospermic and oligozoospermic Japanese men

“…However, few reports have demonstrated correlations between the extent of microdeletions and sperm concentration (Vogt et al 1996;Najmabadi et al 1996;Kremer et al 1997;Simoni et al 1997). Accordingly, in this study, in order to elucidate the relation between Y chromosome deletion and defects of spermatogenesis, including severe and mild oligozoospermia, we analyzed DNAs from azoospermic and oligozoospermic Japanese men, using polymerase chain reaction (PCR) with sequence-tagged site (STS) primers (Vollrath et al 1992). …”

Genetics of Male Infertility: Evolution of the X and Y Chromosome and Transmission of Male Infertility to Future Generations

“…In 1992, comprehensive Y chromosomal maps were constructed using yeast artificial chromosomes (YACS) and sequenced tagged sites (STS), and this created the possibility for more detailed study of the Y chromosome in infertile men Vollrath et al, 1992). Using polymerase chain reaction (PCR), a more refined search for Y chromosome deletions could be pursued by testing for as many as 52 DNA landmarks (STSs, or sequence tagged sites) across the entirety of the Y chromosome.…”