To find the association between recurrent spontaneous abortion (RSA)/early embryo growth arrest and Y chromosome polymorphism.
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.
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.
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.
To read this article in full you will need to make a payment
Purchase one-time access:Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
One-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:Subscribe to European Journal of Obstetrics and Gynecology and Reproductive Biology
Already a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
- Chromosome heteromorphisms: an impact on infertility.J Assist Reprod Genet. 2008; 25: 191-195
- A case–control study identifying chromosomal polymorphic variations as forms of epigenetic alterations associated with the infertility phenotype.Fertil Steril. 2009; 92: 88-95
- Chromosomal abnormalities and polymorphic variants in couples with repeated miscarriage in Mexico.Reprod Biomed Online. 2009; 18: 543-548
- Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y.Hum Mol Genet. 2007; 16: 307-316
- Y chromosome heterochromatin of differing lengths in two cell populations of the same individual.Prenat Diagn. 2005; 25: 304-306
- Genomic instability of the DYZ1 repeat in patients with chromosome anomalies and males exposed to natural background radiation.DNA Res. 2006; 13: 103-109
- Repeated sequence specific to human males.Nature. 1976; 262: 182-186
- A human Y-chromosome specific repeated DNA family (DYZ1) consists of a tandem array of pentanucleotides.Nucleic Acids Res. 1986; 14: 7569-7580
- Genomics of the human Y-chromosome: association with male infertility.Gene. 2003; 321: 25-37
- Definitions of infertility and recurrent pregnancy loss.Fertil Steril. 2008; 90: S60
- Frequency of chromosome variants in human populations.Genetika. 1979; 15: 745-751
- The problem of complete Y-linkage in man.Am J Hum Genet. 1957; 9: 147-166
- The pseudoautosomal regions: SHOX and disease.Curr Opin Genet Dev. 2006; 16: 233-239
- The human Y chromosome: a masculine chromosome.Curr Opin Genet Dev. 2006; 16: 225-232
- Evolution and mutation of human Y chromosome and their relationship with male infertility.Zhonghua Nan Ke Xue. 2009; 15: 291-296
- Micro-deletions of the human Y chromosome and their relationship with male infertility.J Genet Genom. 2008; 35: 193-199
- Molecular identification of chromosome Y sequences in Brazilian patients with Turner syndrome.Gynecol Endocrinol. 2008; 24: 713-717
- Microchimerism in peripheral blood and urine in renal transplant recipients: preliminary results.Transplant Proc. 2008; 40: 3434-3436
- Divergent outcomes of intrachromosomal recombination on the human Y chromosome: male infertility and recurrent polymorphism.J Med Genet. 2000; 37: 752-758
Published online: August 01, 2011
Accepted: July 11, 2011
Received in revised form: June 25, 2011
Received: October 13, 2010
© 2011 Elsevier Ireland Ltd. Published by Elsevier Inc. All rights reserved.