Abstract：
OBJECTIVE:To evaluate the frequency of azoospermia factor (AZFa) microdeletions among infertile men and establish a new high-throughput sequencing method to detect novel deletion types. MATERIALS AND METHODS:A total of 3731 infertile men were included. Karyotype analysis was performed using G-band staining of peripheral blood lymphocytes. Polymerase chain reaction (PCR) amplification using specific sequence-tagged sites (STS) was performed to screen for AZF region microdeletions of the Y chromosome. A novel semiconductor sequencing method was established to detect high-resolution AZFa microdeletions. RESULTS:Of 3731 infertile men, 341 (9.14%) had microdeletions in AZFa, AZFb, or AZFc. Thirteen of these (3.81%) had a deletion in the AZFa region (mean age: 27.3 ± 4 years, range: 22-34), which included 12 subjects with a normal karyotype (46, XY) and 1 with Klinefelter syndrome (47, XXY). Four of 10 subjects with complete AZFa microdeletions (sY86 and sY84 loss) underwent semiconductor sequencing. They all had DNA sequence deletions from nt 14469266 to 15195932, whereas their fathers had no deletions. One subject with partial AZFa microdeletion (sY86 loss) and his father underwent semiconductor sequencing and STS-PCR analysis. The same deletion (sY86 loss with DNA sequence deletion from nt 14469266 to 14607672) was identified in both subjects. Forty sperm donators and 50 infertile men showed no AZFa microdeletions by either method. CONCLUSION:AZFa deletions are present at a low frequency in men with azoospermia or oligozoospermia. Novel sequencing methods can be used for these patients to reveal high-resolution AZFa microdeletions.
journal_name
Urologyjournal_title
Urologyauthors
Liu XY,Zhang HY,Pang DX,Xue LT,Yang X,Li YS,Liu RZdoi
10.1016/j.urology.2017.04.024subject
Has Abstractpub_date
2017-09-01 00:00:00pages
76-81eissn
0090-4295issn
1527-9995pii
S0090-4295(17)30395-3journal_volume
107pub_type
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