Abstract
Objectives
To find the association between recurrent spontaneous abortion (RSA)/early embryo
growth arrest and Y chromosome polymorphism.
Study design
Peripheral blood samples of the male patients of big Y chromosome, small Y chromosome
and other male patients whose partners suffered from unexplained RSA/early embryo
growth arrest were collected. PCR and real-time fluorescent quantitative PCR were
used to test the deletion and the copy number variation of DYZ1 region in Y chromosome
of the patients. A total of 79 big Y chromosome patients (48 of whose partners suffered
from RSA or early embryo growth arrest), 7 small Y chromosome patients, 106 other
male patients whose partners had suffered from unexplained RSA or early embryo growth
arrest, and 100 normal male controls were enrolled.
Results
There was no fraction deletion of DYZ1 detected both in big Y patients and in normal
men. Of RSA patients, 1 case showed deletion of 266 bp from the gene locus 25–290 bp, and 2 cases showed deletion of 773 bp from 1347 to 2119 bp. Of only 7 small Y chromosome patients, 2 cases showed deletion of 266 bp from 25 to 290 bp, and 4 cases showed deletion of 773 bp from 1347 to 2119 bp and 275 bp from 3128 to 3420 bp.
The mean of DYZ1 copies was 3900 in normal control men; the mean in big Y patients
was 5571, in RSA patients was 2655, and in small Y patients was 1059. All of the others
were significantly different (P < 0.01) compared with normal control men, which meant that DYZ1 copy number in normal
control men was less than that of big Y chromosome patients, and was more than that
of unexplained early RSA patients and small Y patients.
Conclusions
The integrity and copy number variation of DYZ1 are closely related to the Y chromosome
length under microscope. The cause of RSA/early embryo growth arrest in some couples
may be the increase (big Y patients) or decrease of DYZ1 copy number in the husbands’
Y chromosome.
Keywords
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Article info
Publication history
Published online: August 01, 2011
Accepted:
July 11,
2011
Received in revised form:
June 25,
2011
Received:
October 13,
2010
Identification
Copyright
© 2011 Elsevier Ireland Ltd. Published by Elsevier Inc. All rights reserved.
