Analysis of Yq microdeletions in infertile males by PCR and DNA hybridization techniques |
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Authors: | Grimaldi P; Scarponi C; Rossi P; March MR; Fabbri A; Isidori A; Spera G; Krausz C; Geremia R |
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Institution: | Cattedra di Anatomia, Dipartimento di Sanita Pubblica e Biologia Cellulare, Universita degli Studi di Roma Tor Vergata, Italy. |
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Abstract: | Defects in spermatogenesis have been found associated with deletions of
different portions of Y chromosome long arm (Yq), suggesting the presence
of the azoospermia factor in the control of spermatogenesis. We studied 67
men with idiopathic azoospermia and severe oligozoospermia, cytogenetically
normal, for the presence of microdeletions on Yq chromosome. By using
polymerase chain reaction (PCR) and Southern blotting techniques we
analysed the AZFa, AZFb and AZFc loci on Yq, where deletions have been
associated with defects in spermatogenesis. Deletions of a portion of the Y
chromosome were detected in five patients. Four of these patients shared
deletions in distal Yq11 interval 6, including the DAZ gene, while one
patient lacked loci in the proximal Yq11. Testicular histology of two
patients bearing distal Yq11 deletions showed two different spermatogenic
defects including Sertoli cell-only (SCO) syndrome and maturation arrest,
while the patient with microdeletions in the proximal Yq11 showed a SCO
phenotype.
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