Using multiplex PCR to analyze the breakpoint of a severe Y-chromosome deletion / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 560-562, 2005.
Article
Dans Chinois
| WPRIM
| ID: wpr-280001
ABSTRACT
<p><b>OBJECTIVE</b>To elucidate the relationship between azoospermia factor(AZF) microdeletion of Y chromosome and azoospermia, the exact breakpoint of a severe Y-chromosome deletion was determined according to the physical map of AZF.</p><p><b>METHODS</b>Multiplex polymerase chain reaction was used to amplify fifteen sequence tagged sites (STS), namely sY82, sY84, sY86 in AZFa, sY124, sY127, sY128, sY133, sY134, sY143 in AZFb, sY239, sY242 sY254, sY255 in AZFc, and sY145, sY152 in AZFd; sex-determining region Y(SRY) was taken as an internal control. And then sY82,sY86,sY85,sY84 were further analyzed using the sample of the patient who had Y-chromosome deletion by G band analysis to map the breakpoint at molecular level.</p><p><b>RESULTS</b>All 15 STS and sY85 were amplified in positive control while only sY82, sY86 were amplified in the clinical sample, thus the breakpoint was found to be between sY86 and sY85.</p><p><b>CONCLUSION</b>This study on the patient provided the direct biomolecular evidence of the exact breakpoint of the severe Y-chromosome deletion and established the deletion map of acrocentric chromosome. It also proved that the patient's azoospermia was due to the deletion of AZF.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Réaction de polymérisation en chaîne
/
Reproductibilité des résultats
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Délétion de segment de chromosome
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Sensibilité et spécificité
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Cassure de chromosome
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Chromosomes Y humains
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Diagnostic
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Azoospermie
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Génétique
/
Méthodes
Type d'étude:
Etude diagnostique
Limites du sujet:
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2005
Type:
Article
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