Cytogenetic and molecular studies of azoospermic and oligozoospermic males have suggested the presence of @entity3893 factors (AZF) in the @entity1 Y chromosome. Deletion in three Y chromosomal regions--AZFa, AZFb and AZFc--has been reported to disrupt spermatogenesis and cause @entity249 . Several candidate genes responsible for spermatogenesis have been identified in these regions and some of them are thought to be functional in @entity1 spermatogenesis. Here we report on clinical and molecular studies of Y chromosome micro-deletions in Japanese. In these studies the data from 157 @entity249 Japanese @entity1 with @entity3893 and @entity6660 was analyzed and divided into 5 categories based on spermatozoa count. Sixteen sets of primers were used for polymerase chain reaction (PCR) to amplify sequence tagged site markers. One common deletion in the AZFc region was identified in @entity249 @entity1 . On the other hand, no deletions around the AZFc region were identified in fertile @entity1 . Japanese @entity249 @entity1 in our study had a common deletion in the AZFc region of the Y chromosome. A genomic clone was obtained by PCR screening of the P1 phage artificial chromosome (PAC) library. This clone was analyzed by Southern blotting using a PCR amplified probe of sY240. Our analysis of the genomic sequence of the clone suggests that this locus may contain specific genes for spermatogenesis.

Molecular analysis of the Y chromosome AZFc region in Japanese XXXX males with spermatogenic defects.

@entity1 :: ('9606', 'Species') :: ['human', 'men'] @entity249 :: ('MESH:D007246', 'Disease') :: ['infertility', 'infertile'] @entity6660 :: ('MESH:D009845', 'Disease') :: ['oligozoospermia'] @entity3893 :: ('MESH:D053713', 'Disease') :: ['azoospermia']
@entity249 :: (MESH:D007246,Disease) :: ['infertile']
