Abstract:

Objective To discuss the relationship between microdeletions of 15 sequence tagged sites （STS） in azoospermia factor （AZF） region of the Y chromosome and male infertility （MI）， and to provide the evidence for the intervention of hereditary MI. Methods A total of 2 586 suspected MI patients were selected， and they were divided into four groups according to their ages，≤20 years old group（14 cases）， 21—30 years old group（988 cases）， 31—40 years old group（1 318 cases），and ≥41 years old group（266 cases）. The polymerase chain reaction （PCR） method was used to detect the 15 STS sequence fragments in the Y chromosome AZF region and the abnormal results were screened out. The microdeletion status of the Y chromosome was compared among the MI patients in various groups. Results Among 2 586 samples， 207 cases of Y chromosome abnormalities were found， accounting for 8.00% （207/2 586） of the total samples. The Y chromosome abnormalit rates of the somples in≤20 years old， 21—30 years old，31—40 years old， and ≥41 years old groups were 7.14% （1/14）， 8.10% （80/988），8.04% （106/1 318）， and 7.52% （20/266）， respectively； there were significant differences in the detetion rates of base sites and extension sites of the patients between various groups （χ²=10.836，P=0.013），and the deletion rate of base sites and extension sites of the patients in 21—30 years old group was higher than that in 31—40 years old group （P<0.05）. In the overall tested samples， 52 cases of base site fragment deletion were found， the abnormality rate was 2.01%， and there were significant differences in the abnormality rates of the patients between various groups （χ²=9.658， P=0.022）. The deletion rate of the AZFc segment accounted for 1.39% of all tested individuals， and the deletion rates of the patients in 21—30 years old group and 31—40 years old group were significantly higher than that in ≥41 years old group （P<0.05）.There were significant differences in the overall deletion rates of the patients between 21—30 years old and 31—40 years old groups（χ²=3.612，P=0.040）. There were no statistically significant differences in the deletion rates of the sY127， sY134 combined with sY105， sY121， sY1192， sY153， and sY160 sites of the patients between various groups （P>0.05），and there were no significant differences in the deletion rates of the sY254， sY255 combined with sY105， sY121， sY1192， sY153， and sY160 sites of the patients between various groups （P>0.05）. Conclusion The main cause of Y chromosome abnormalities of the males in reproductive age group in Northeast of Guangxi Zhuang Autonomous Region is microdeletion at the sY1192 and sY153 sites， and the sY1192 site microdeletion is the most prevalent. The detection rate of mutation at this site is increased with the increasing of age.

Key words: Male infertility, Y chromosome, Microdeletion site, Tag site, Azoospermia factor