[Sequence tagged sites of AZFc microdeletion in Chinese Han population]

To investigate the patterns of azoospermia factor C (AZFc) microdeletion in the Chinese Han population and optimize the selection of the required sequence tagged sites (STSs) of AZF microdeletion in multiplex polymerase chain reaction (PCR).

Nine STSs (sY84, sY86, sY127, sY134, sY152, sY145, sY255, sY254 and sY157) were detected by multiplex polymerase reaction for Y chromosome microdeletion in 164 Chinese Han patients with severe oligozoospermia or non-obstructive azoospermia, and another 105 with normal sperm concentration were included as controls. Meanwhile 180 cases of AZFc microdeletion (absence of sY255 and sY254) from multiple reproductive medical centers were analyzed for sY145, sY152 and sY157.

Fourteen (8.5%) of the 164 patients with severe oligozoospermia or non-obstructive azoospermia showed AZFc microdeletion (absence of sY255 and sY254). All the 194 patients with the absence of sY255 and sY254 displayed the presence of sY145 and sY152, only 2 of them with sY157 present. Deletion of sY1206 and DAZ3/DAZ4 copies was confirmed in 1 case of severe oligozoospermia with sY157 absent only.

Deletion of sY255 and sY254 as well as sY157 is the most common pattern of AZFc microdeletion in the Chinese Han population. sY145 and sY152 can be omitted in AZFc screening. Absence of sY157 alone may be a new type of partial AZFc microdeletion in the Chinese Han population, and the clinical significance of unique sY157 absent needs to be further explored.