Y chromosome microdeletions of 664 Chinese men with azoospermia or severe oligozoospermia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 252-255, 2008.
Article
Dans Chinois
| WPRIM
| ID: wpr-229779
ABSTRACT
<p><b>OBJECTIVE</b>To explore the incidence and location of Y chromosome microdeletions in Chinese azoospermia and severe oligozoospermia, as well as the relationship between the deletion region and testicular phenotype.</p><p><b>METHODS</b>Semen samples or blood samples were collected from 664 Chinese patients (584 with azoospermia and 80 with severe oligozoospermia). DNA was extracted by incubating cells with a lysis buffer containing polymerase chain reaction (PCR) buffer and proteinase K, and was assayed for deletion of 15 sequence tagged sites (including 6 loci recommended by European Academy of Andrology and European Molecular Genetics Quality Network (EAA/EMQN) distributed in AZFa, AZFb and AZFc by 4 multiplex PCRs. The histological phenotypes of testes of some azoospermic patients harboring Y chromosome microdeletion were studied by fine needle aspiration.</p><p><b>RESULTS</b>Sixty-six (11.3%) cases of microdeletions were found in the 584 patients with azoospermia, and deletions of AZFc region are the leading group (72.7% of all deletions), followed by AZFbc (13.6%), AZFabc (6.1%), AZFb (4.5%) and AZFa (3.0%). In the 80 men with severe oligozoospermia, 10 (12.5%) cases of AZFc microdeletions were detected. While azoospermia (n=19) with AZFc region deletion showed variable testicular phenotype, deletions of AZFb+c and AZFa+b+c (n=7) resulted in severe impaired spermatogenesis characterized by Sertoli cell only syndrome and spermatogenic arrest at spermatogonia.</p><p><b>CONCLUSION</b>In the Chinese men with azoospermia and severe oligozoospermia, the incidence of Y chromosome microdeletions and the frequency of the deletions of the three AZF regions are similar to those described previously in other populations. Massive deletions of AZFb+c and AZFa+b+c impair spermatogenesis severely.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Oligospermie
/
Réaction de polymérisation en chaîne
/
Délétion de segment de chromosome
/
Chromosomes Y humains
/
Azoospermie
/
Génétique
/
Modèles génétiques
Type d'étude:
Étude pronostique
Limites du sujet:
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2008
Type:
Article
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