• PMID: 29373224
• Gene Name: CDK2
• Condition: Non-obstructuive azoospermia
• Association: Associated
• Mutation: c.324G>A in exon 1; c.363T>C in exon 2; c.*570G>A; and c.*1160G>C
• Population size: 175
• Population details: 175 men with idiopathic NOA who underwent testis biopsy, including hypospermatogenesis, germ cell maturation arrest and Sertoli cell only syndrome
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Non-obstructuive azoospermia

Analysis of CDK2 mutations in Chinese men with non-obstructive azoospermia who underwent testis biopsy

Liu W, Gao X, Yan L, Liu H, Yu R, Zhao S, Ma J.

To examine whether mutations of the CDK2 gene exist in Chinese men with non-obstructive azoospermia (NOA) with different histopathology, we recruited 175 Chinese men with idiopathic NOA who underwent testis biopsy, including hypospermatogenesis, germ cell maturation arrest and Sertoli cell only syndrome. Genomic DNA was extracted from peripheral blood samples. Subsequently, the seven exons of the CDK2 gene were amplified using polymerase chain reaction with specific primers, respectively. The polymerase chain reaction products were sequenced on an automated sequencer. We identified four known single nucleotide polymorphisms: c.324G>A in exon 1; c.363T>C in exon 2; c.*570G>A; and c.*1160G>C in the 3' UTR of the CDK2 gene. Comparison of the genotype and allele frequencies showed no significant differences between NOA cases and controls for the four single nucleotide polymorphisms. Furthermore, no significant differences were found between each pathological group and control group, respectively. The results indicate that mutations in the coding sequence of the CDK2 gene may not be responsible for idiopathic NOA in Chinese men. Future studies in large cohorts of different ethnic populations are warranted to establish whether associations exist between the CDK2 gene and NOA. CI - Copyright © 2018 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved. FAU - Liu, Wen AU - Liu W AD - Center for Reproductive Medicine, Shandong University, 157 Jingliu Road, Jinan, 250021, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Shandong University, 157 Jingliu Road, Jinan, 250021, China; The Key Laboratory of Reproductive Endocrinology (Shandong University), Ministry of Education, Shandong Provincial Key Laboratory of Reproductive Medicine, 157 Jingliu Road, Jinan, 250021, China. FAU - Gao, Xuan AU - Gao X AD - Center for Reproductive Medicine, Shandong University, 157 Jingliu Road, Jinan, 250021, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Shandong University, 157 Jingliu Road, Jinan, 250021, China; The Key Laboratory of Reproductive Endocrinology (Shandong University), Ministry of Education, Shandong Provincial Key Laboratory of Reproductive Medicine, 157 Jingliu Road, Jinan, 250021, China. FAU - Yan, Lei AU - Yan L AD - Center for Reproductive Medicine, Shandong University, 157 Jingliu Road, Jinan, 250021, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Shandong University, 157 Jingliu Road, Jinan, 250021, China; The Key Laboratory of Reproductive Endocrinology (Shandong University), Ministry of Education, Shandong Provincial Key Laboratory of Reproductive Medicine, 157 Jingliu Road, Jinan, 250021, China. FAU - Liu, Hongli AU - Liu H AD - Center for Reproductive Medicine, Shandong University, 157 Jingliu Road, Jinan, 250021, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Shandong University, 157 Jingliu Road, Jinan, 250021, China; The Key Laboratory of Reproductive Endocrinology (Shandong University), Ministry of Education, Shandong Provincial Key Laboratory of Reproductive Medicine, 157 Jingliu Road, Jinan, 250021, China. FAU - Yu, Ruimei AU - Yu R AD - Center for Reproductive Medicine, Shandong University, 157 Jingliu Road, Jinan, 250021, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Shandong University, 157 Jingliu Road, Jinan, 250021, China; The Key Laboratory of Reproductive Endocrinology (Shandong University), Ministry of Education, Shandong Provincial Key Laboratory of Reproductive Medicine, 157 Jingliu Road, Jinan, 250021, China. FAU - Zhao, Shidou AU - Zhao S AD - Center for Reproductive Medicine, Shandong University, 157 Jingliu Road, Jinan, 250021, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Shandong University, 157 Jingliu Road, Jinan, 250021, China; The Key Laboratory of Reproductive Endocrinology (Shandong University), Ministry of Education, Shandong Provincial Key Laboratory of Reproductive Medicine, 157 Jingliu Road, Jinan, 250021, China. Electronic address: shidouzhao@sdu.edu.cn.