S. Komori et al., Analysis for microdeletions of Y chromosome in a single spermatozoon from a man with severe oligozoospermia, J HUM GENET, 46(2), 2001, pp. 76-79
Since the association between Y chromosome deletions and spermatogenic fail
ure was demonstrated in 1976, there have been many reports of Y chromosome
microdeletions. Peripheral blood lymphocytes (PBLs) have been used for the
analysis because the method is convenient, materials are easy to obtain, an
d PBL genomic DNA is similar to that of germ cells such as spermatozoa. How
ever, PBLs originate from somatic tissue, not from germ cells. in this stud
y, we analyzed 30 spermatozoa in semen ejaculated by an infertile male with
Y chromosome microdeletions, while 50 spermatozoa from a normal fertile ma
le were used as a control. The same Y chromosome microdeletion as that foun
d in PBL was identified in each of the 12 spermatozoa which contained the Y
chromosome in the infertile patient. These results indicated that spermato
zoa (germ cells) had the same Y chromosome microdeletion as PBL (somatic ce
lls). This supports the conjecture that microdeletions are transmitted to t
he next generation via the treatment of infertility by intracytoplasmic spe
rm injection.