Special Column for Reproductive Genetics
Analysis of copy number variation in AZF region of Y chromosome in patients with spermatogenic failure
Gao Hui, Wang Lijuan, Song Yaqin, Ma Di, Nie Rui, Hu Yuhua, He Huiyan, Zhang Ruanzhang, Wang Shayan, Guo Hui
Published 2023-09-10
Cite as Chin J Med Genet, 2023, 40(9): 1068-1074. DOI: 10.3760/cma.j.cn511374-20220903-00602
Abstract
ObjectiveTo explore the characteristics of copy number variation (CNV) within the Y chromosome azoospermia factor (AZF) region in patients with spermatogenesis disorders in the Shenzhen area.
MethodsA total of 123 patients with spermatogenesis disorders who had visited Shenzhen People′s Hospital from January 2016 to October 2022 (including 73 patients with azoospermia and 50 patients with oligozoospermia) and 100 normal semen males were selected as the study subjects. The AZF region was detected with multiplex ligation-dependent probe amplification (MLPA), and the correlation between the CNV in the AZF region and spermatogenesis disorders was analyzed using the chi-square test or Fisher′s exact test.
Results19 CNV were detected among 53 patients from the 223 samples, including 20 cases (27.40%, 20/73) from the azoospermia group, 19 cases (38%, 19/50) from the oligozoospermia group, and 14 cases (14%, 14/100) from the normal control group. In the azoospermia, oligozoospermia, and normal control groups, the detection rates for CNV related to the AZFa region (including AZFab and AZFabc) were 5.48% (4/73), 2.00% (1/50), and 0 (0/100), respectively. The detection rates for the AZFb region (including the AZFbc region) were 6.85% (5/73), 0 (0/50), and 0 (0/100), respectively. The detection rates for gr/gr deletions in the AZFc region were 2.74% (2/73), 6.00% (3/50), and 9.00% (9/100), respectively, and those for b2/b4 deletions in the AZFc region were 2.74% (2/73), 10.00% (5/50), and 0 (0/100), respectively. The detection rates for complex rearrangements in the AZFc region were 6.85% (5/73), 18.00% (9/50), and 3.00% (3/100), respectively. Statistical analysis showed no significant difference in the detection rate of gr/gr deletions between the three groups (Fisher′s Exact Test value = 2.712, P=0.249); the differences in the detection rate of b2/b4 deletions between the three groups were statistically significant (Fisher′s Exact Test value = 9.489, P=0.002); the differences in the detection rate of complex rearrangements in the AZFc region between the three groups were statistically significant (Fisher′s Exact Test value = 9.493, P=0.006). In this study, a rare AZFa region ARSLP1 gene deletion (involving SY86 deletion) was detected in a patient with oligozoospermia.
ConclusionCNV in the AZFa and AZFb regions have a severe impact on spermatogenesis, but partial deletion in the AZFa region (ARSLP1 gene deletion) has a minor impact on spermatogenesis. The b2/b4 deletion and complex rearrangement in the AZFc region may be risk factors for male infertility. The gr/gr deletion may not serve as a risk factor for male infertility in the Shenzhen area.
Key words:
Spermatogenesis; Azoospermia factor; Copy number variation; Multiplex ligation-dependent probe amplification; Male
Contributor Information
Gao Hui
Forensic Evidence Laboratory, Shenzhen People′s Hospital (the Second Clinical College of Jinan University, the First Affiliated Hospital of Southern University of Science and Technology), Shenzhen, Guangdong 518020, China
Wang Lijuan
Forensic Evidence Laboratory, Shenzhen People′s Hospital (the Second Clinical College of Jinan University, the First Affiliated Hospital of Southern University of Science and Technology), Shenzhen, Guangdong 518020, China
Song Yaqin
Forensic Evidence Laboratory, Shenzhen People′s Hospital (the Second Clinical College of Jinan University, the First Affiliated Hospital of Southern University of Science and Technology), Shenzhen, Guangdong 518020, China
Ma Di
Forensic Evidence Laboratory, Shenzhen People′s Hospital (the Second Clinical College of Jinan University, the First Affiliated Hospital of Southern University of Science and Technology), Shenzhen, Guangdong 518020, China
Nie Rui
Forensic Evidence Laboratory, Shenzhen People′s Hospital (the Second Clinical College of Jinan University, the First Affiliated Hospital of Southern University of Science and Technology), Shenzhen, Guangdong 518020, China
Hu Yuhua
Forensic Evidence Laboratory, Shenzhen People′s Hospital (the Second Clinical College of Jinan University, the First Affiliated Hospital of Southern University of Science and Technology), Shenzhen, Guangdong 518020, China
He Huiyan
Clinical Medical Research Center, Shenzhen People′s Hospital (the Second Clinical College of Jinan University, the First Affiliated Hospital of Southern University of Science and Technology), Shenzhen, Guangdong 518020, China
Zhang Ruanzhang
Forensic Evidence Laboratory, Shenzhen People′s Hospital (the Second Clinical College of Jinan University, the First Affiliated Hospital of Southern University of Science and Technology), Shenzhen, Guangdong 518020, China
Wang Shayan
Forensic Evidence Laboratory, Shenzhen People′s Hospital (the Second Clinical College of Jinan University, the First Affiliated Hospital of Southern University of Science and Technology), Shenzhen, Guangdong 518020, China
Guo Hui
Forensic Evidence Laboratory, Shenzhen People′s Hospital (the Second Clinical College of Jinan University, the First Affiliated Hospital of Southern University of Science and Technology), Shenzhen, Guangdong 518020, China
