[Correlation of gr/gr and b2/b3 deletions in the AZFc region of the Y-chromosome with recurrent spontaneous abortion].

Objective: To investigate the association of gr/gr, b2/b3 and gr/gr with b1-2/b3-4 deletions (repetitions) in the AZFc region of the Y chromosome with recurrent spontaneous abortion (RSA).

Methods: Using the next-generation sequencing technology, we examined the men with indications of Y chromosome microdeletion at our center from June 2017 to March 2018 and excluded the common causes of RSA through inquiry and other related examinations. Totally, 170 cases of AZFc deletion (80 cases of gr/gr deletion, 75 cases of b2/b3 deletion, and 15 cases of gr/gr with b1-2/b3-4 deletion) were detected and included in the case group, and another 328 normal males enlisted as controls. We analyzed the correlation of Y chromosome microdeletions with the incidence rate of RSA.

Results: The incidence rate of RSA was significantly higher in the case group than in the normal controls (28.8% ［49/170］ vs 13.1% ［43/328］, P < 0.01), 22.5% (18/80) in the gr/gr deletion cases (P < 0.05), 30.7% (23/75) in the b2/b3 deletion cases (P < 0.01), and 53.3% (8/15) in the gr/gr with b1-2/b3-4 deletion cases (P < 0.01), remarkably lower in the gr/gr than in the gr/gr with b1-2/b3-4 deletion subgroup (P < 0.05), but with no statistically significant difference between the other subgroups.

Conclusions: The gr/gr, b2/b3, and gr/gr with b1-2/b3-4 deletions (repetitions) in the AZFc region of the Y chromosome may cause recurrent spontaneous abortion.