Estudio genético de microdeleciones en la región AZF en la población masculina azo-oligospérmica de Mendoza
After Klinefelter syndrome, Y chromosome´s microdeletions (YCM) are the second most frequent genetic cause of male infertility. YCM occur at the azoospermia factor (AZF) locus in the q11.23 band. AZF is subdivided into three regions: AZFa, AZFb and AZFc. Actually there is not statistics about preval...
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| Autores principales: | , , , |
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| Publicado: |
2019
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| Acceso en línea: | https://bdigital.uncu.edu.ar/fichas.php?idobjeto=14288 |
| Sumario: | After Klinefelter syndrome, Y chromosome´s microdeletions (YCM) are the second most frequent genetic cause of male infertility. YCM occur at the azoospermia factor (AZF) locus in the q11.23 band. AZF is subdivided into three regions: AZFa, AZFb and AZFc. Actually there is not statistics about prevalence of YCM in our region. Research in infertility cause would determine the steps to follow and to specify a correct genetic counseling, since YCM will be transmitted to the male offspring. The aim of this study is to analyze the prevalence and characterization of YCM in patients with non-obstructive azoospermia or severe oligozoospermia with normal karyotypes in Mendoza province. We obtained blood sample from 37 individuals, 26 from Mendoza´s province and 11 from Argentina northern. DNA was extracted by Salting Out technique and AZF subregions were amplified by multiplex PCR, then they were analized in an Automatic Sequencer ABI3130. At the moment, YCM has not been detected in male patients from the of Mendoza province. However we found microdeletions in two patients from Argentina northern, one of them in the AZFc region and another in the AZFbc region. The laboratory keeps working in the reception of samples. Our intention is to expand the samples number to obtain data that reflect the AZF genotype of Mendoza male population. |
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