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Presented by: Maria Paula Arenas & Lina Maria Alzate
Introduction
• Male infertility:
Men that aren't able to conceive a
child.
Is due to low sperm production,
abnormal sperm function or
blockages that prevent the delivery
of sperm.
• Microdeletion
Is a family of genetic disorders
caused by missing genes in one
or more chromosomes.
The effects depend on exactly
where the missing piece is and
how big it is.
Introduction
• Y chromosome
Is one of the two sex chromosomes in humans.
The Y chromosome likely contains 50 to 60
genes that provide instructions for making
proteins.
The genes on this chromosome tend
to be involved in male sex
determination, fertility and
development.
Introduction
Introduction
Y Chromosome Microdeletion
AZF geneInfertility
• Dyzoospermia
• Oligospermia
• Azoospermia
Table 1
Table 2
To explore the correlation between azoospermia
factor (AZF) microdeletion of the Y chromosome
and male infertility.
Objective
Datos Clínicos:
• 166 hombres infértiles.
• 50 hombres fértiles(controles saludables).
• Esposas de estos hombres, con capacidad
reproductiva normal(controles negativos).
• Desde Febrero de 2010 a Febrero de 2014.
• Clínica de andrología del centro de reproducción
de la Universidad de Zhengzhou, Henan, China.
• Hombres casados con sus esposas de 2 a 13 años
y que vivieran juntos.
Métodos
Criterios de exclusión:
• Anticonceptivos
• Infecciones presentes en
• Fluido seminal.
Azoospermia: 3 ensayos sin encontrar
espermatozoides.
Oligospermia: Concentración < 5 x 10 /mL
Métodos
Métodos
PCR
• Objetivo: Amplificar secuencias específicas de
DNA.
• Usa: Nucleótidos, Taq polimerasa,2 cebadores
Métodos
Electroforesis
• Principio: Migración de partículas(ADN) en un
campo eléctrico a través de un gel de agarosa.
Métodos
Resultados
Resultados
Resultados
Other studies What it says Author opinion
Benoff, 2004 Genetic causes of male infertility include
microdeletion, mutations, chromosome
aberration and nucleotide polymorphism.
Shimizu, 2002 Aproximately 10% of non-obstructive
azoospermia patients are positive for Y
chromosome AZF microdeletion.
Ristanovic, 2007 He observed high incidence of AZFc
microdeletion among patients suffering
severe oligospermia.
Chiang, 2000
Dohle, 2002
Around 60% of Y chromosome
microdeletions occurs in AZFc. That cause
small quantity of active sperms and large
number of abnormal sperms.
Discussion
• There are no important differences in the
prevalence of microdeletions in patients with
azoospermia and severe oligospermia.
• This study could be important because it can
guide to a diagnosis and possible treatment.
Conclusion
• Most of the patients with infertility presents
microdeletions in AZFc gene.
• Male infertility could express in different ways,
according to the affected gene.
Gene Description
AZFa Azoospermia and small testicular volume.
AZFb Termination of sperm production.
AZFc Small quantity of active sperms and large number
of abnormal sperms.
AZFd Mild oligospermia.
Conclusion
• Martinez, L., Vargas, N., Mejia, L., Osorio, F., &
Ramirez, S. (2015). Biología Molecular.
Medellin: Editorial Universidad Pontificia
Bolivariana.
• Morales, G. C. (02 de 01 de 2014). Youtube.
Recuperado el 16 de 08 de 2016, de Youtube:
https://www.youtube.com/watch?v=TalHTjA5
gKU
Bibliography
Seminario Biomol

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Seminario Biomol

  • 1. Presented by: Maria Paula Arenas & Lina Maria Alzate
  • 2. Introduction • Male infertility: Men that aren't able to conceive a child. Is due to low sperm production, abnormal sperm function or blockages that prevent the delivery of sperm.
  • 3. • Microdeletion Is a family of genetic disorders caused by missing genes in one or more chromosomes. The effects depend on exactly where the missing piece is and how big it is. Introduction
  • 4. • Y chromosome Is one of the two sex chromosomes in humans. The Y chromosome likely contains 50 to 60 genes that provide instructions for making proteins. The genes on this chromosome tend to be involved in male sex determination, fertility and development. Introduction
  • 5. Introduction Y Chromosome Microdeletion AZF geneInfertility • Dyzoospermia • Oligospermia • Azoospermia
  • 7. To explore the correlation between azoospermia factor (AZF) microdeletion of the Y chromosome and male infertility. Objective
  • 8. Datos Clínicos: • 166 hombres infértiles. • 50 hombres fértiles(controles saludables). • Esposas de estos hombres, con capacidad reproductiva normal(controles negativos). • Desde Febrero de 2010 a Febrero de 2014. • Clínica de andrología del centro de reproducción de la Universidad de Zhengzhou, Henan, China. • Hombres casados con sus esposas de 2 a 13 años y que vivieran juntos. Métodos
  • 9. Criterios de exclusión: • Anticonceptivos • Infecciones presentes en • Fluido seminal. Azoospermia: 3 ensayos sin encontrar espermatozoides. Oligospermia: Concentración < 5 x 10 /mL Métodos
  • 11. PCR • Objetivo: Amplificar secuencias específicas de DNA. • Usa: Nucleótidos, Taq polimerasa,2 cebadores Métodos
  • 12.
  • 13. Electroforesis • Principio: Migración de partículas(ADN) en un campo eléctrico a través de un gel de agarosa. Métodos
  • 17. Other studies What it says Author opinion Benoff, 2004 Genetic causes of male infertility include microdeletion, mutations, chromosome aberration and nucleotide polymorphism. Shimizu, 2002 Aproximately 10% of non-obstructive azoospermia patients are positive for Y chromosome AZF microdeletion. Ristanovic, 2007 He observed high incidence of AZFc microdeletion among patients suffering severe oligospermia. Chiang, 2000 Dohle, 2002 Around 60% of Y chromosome microdeletions occurs in AZFc. That cause small quantity of active sperms and large number of abnormal sperms. Discussion
  • 18. • There are no important differences in the prevalence of microdeletions in patients with azoospermia and severe oligospermia. • This study could be important because it can guide to a diagnosis and possible treatment. Conclusion
  • 19. • Most of the patients with infertility presents microdeletions in AZFc gene. • Male infertility could express in different ways, according to the affected gene. Gene Description AZFa Azoospermia and small testicular volume. AZFb Termination of sperm production. AZFc Small quantity of active sperms and large number of abnormal sperms. AZFd Mild oligospermia. Conclusion
  • 20.
  • 21.
  • 22. • Martinez, L., Vargas, N., Mejia, L., Osorio, F., & Ramirez, S. (2015). Biología Molecular. Medellin: Editorial Universidad Pontificia Bolivariana. • Morales, G. C. (02 de 01 de 2014). Youtube. Recuperado el 16 de 08 de 2016, de Youtube: https://www.youtube.com/watch?v=TalHTjA5 gKU Bibliography

Editor's Notes

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