Study of AZFc partial deletion gr/gr in fertile and infertile Japanese males.

Abstract

A recurrent partial azoospermia factor C (AZFc) deletion, called gr/gr, has been reported to be a male infertility risk factor. A specific type of Y chromosome observed in approximately 30% of Japanese males (haplogroup D derived at YAP+) is believed to have a fixed gr/gr deletion. A recent study claimed that spermatogenic failure is more likely in males with D Y chromosomes, because of the gr/gr deletion, the presence of which is not well characterized among D haplogroup chromosomes. We therefore decided to perform a systematic study of the frequency of the gr/gr deletion in the Japanese. We studied fertile and infertile males to investigate the possibility of different gr/gr frequencies. The deletions were detected by use of single tagged-sequences (STSs) and the D haplogroup sub-lineages typing were done by use of the biallelic markers M174, M64, M116.1, 12f2.2, M15, M151, and M125. Analysis of gr/gr deleted Y chromosomes showed that all are classified as haplogroup D2, suggesting a lineage association. The subtype D2b1 was most frequent among the Japanese, in control and infertile samples. The haplogroups D2b2, D*, and D1 were not found in any population group. Remarkably, we observed no statistical difference between haplogroup D sub-lineages of the infertile and control groups, although the statistical power of this study is low. This study suggests lack of significant evidence of increased infertility risk in haplogroup D Japanese males. We were also able to establish the ancestral chromosome that suffered a gr/gr deletion, and propose a new Y chromosome phylogeny for haplogroup D and its derivatives. In summary, we were able to define the frequency of gr/gr deletion in Japanese males and show that the gr/gr deletion was probably present in the ancestral Y chromosome that entered Japan at least 12,000 years ago.

• Authors: Cláudia Márcia Benedetto de Carvalho, Luciana Werneck Zuccherato, Masato Fujisawa, Toshiro Shirakawa, Andrea Kely Campos Ribeiro-Dos-Santos, Sidney E B Santos, Sérgio Danilo Junho Pena, Fabrício Rodrigues Santos
• Journal: Journal of human genetics (J Hum Genet) Vol. 51 Issue 9 Pg. 794-799 ( 2006) ISSN: 1434-5161 [Print] England
• PMID: 16900294 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Seminal Plasma Proteins

Topics

• Asian People (genetics)
• Case-Control Studies
• Chromosomes, Human, Y (genetics)
• Genetic Loci
• Haplotypes
• Humans
• Infertility, Male (genetics)
• Japan
• Male
• Oligospermia (genetics)
• Seminal Plasma Proteins (genetics)
• Sequence Deletion