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Y chromosome microdeletions in spontaneous abortions
Figure 2. Multiplex PCR analyses of Y chromosome microdeletions (M: 50 bp ladder (Fermentas,
Germany); Mix1a, Mix1b and Mix1c: 3 sets of PCR reactions that amplify different loci on Y chromosome
for sample a; Mix1b, Mix2b, Mix3b for sample b; boxes indicate the region and the length of the amplicons.
Discussion
Chromosomal abnormalities, including translocations
and deletions, are higher in infertile men and
are recognized as one of the main causes of
spontaneous abortions with an estimated frequency
of 50–70% (Svetlana et al., 2005)
In couples experiencing RPL, the incidence of
chromosomal translocations is higher than the
incidence present in newborn series (De Braekeleer
and Dao 1991). There is also evidence which
indicates that the presence of translocations
changes the spermatogenic process. It has been
found that the incidence of reciprocal translocation
carriers is seven times more than in newborn series.
As a general rule reciprocal translocation carriers
produce more unbalanced sperm than normal or
balanced sperm. The proportion of unbalanced
forms depends on the characteristics of the
reorganization. Also deletions which remove Y
chromosomal genes required for spermatogenesis
may effect infertility and susceptibility of RPL
(Byrne and Ward, 1994) (Simpson, 1981). As the
severity of the spermatogenic defect increases, the
frequency of the microdeletions also increases.
In this study, primarily, cytogenetic evaluation
was performed from peripheral blood samples of
the couples in spontaneous abortion cases. 30
couples who had a spontaneous abortion history
were karyotyped to detect the chromosome
anomalies. According to karyotype analyses, all the
women and men were found to be 46, XX and 46,
XY, respectively. In our study we couldn’t detect
any numerical and structural chromosome
anomalies that can be detected by karyotype
analyses. Other genetic abnormalities such as Y
chromosome microdeletions may effect spermatogenesis,
fertilization and post-zygotic metabolism
and may influence male infertility and RPL.
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