Analysis of the CAG tract length in the Androgen Receptor gene in Mexican patients with nonsyndromic cryptorchidism
Por:
Landero-Huerta, Daniel A., Vigueras-Villasenor, Rosa M., Taja-Chayeb, Lucia, Garcia-Andrade, Fabiola, Arechaga-Ocampo, Elena, Yokoyama-Rebollar, Emiy, Diaz-Chavez, Jose, Herrera, Luis A., Chavez-Saldana, Margarita D.
Publicada:
1 ene 2021
Resumen:
Objectives: Cryptorchidism is the most common genitourinary birth defect
in live newborn males and is considered as an important risk factor for
testicular germ cell tumors and infertility. The Androgen Receptor gene
is important in this pathology due to its participation, mainly, in the
inguinoscrotal phase of testicular descent. We determine the length of
the CAG tract in the Androgen Receptor (AR) gene in Mexican patients
with nonsyndromic cryptorchidism.
Methods: One hundred and 15 males were included; of these, 62 had
nonsyndromic cryptorchidism and 53 were healthy volunteers. DNA was
extracted from a peripheral blood samples, subsequently, the CAG tract
in exon 1 of AR gene was amplified by PCR and sequenced.
Results: Mexican patients with nonsyndromic cryptorchidism presented
25.03 +/- 2.58 repeats of CAG tract in the AR gene compared to 22.72 +/-
3.17 repeats of CAG tract in Mexican healthy individuals (p <= 0.0001; t
value of 4.3). Furthermore, the deletion of codon 57 that corresponds to
the deletion of a leucine residue at position 57 (Del L57) in the AR
gene was found for the first time in a nonsyndromic cryptorchidism
patient. This molecular alteration has been related previously to
testicular germ cell tumor (TGCT).
Conclusions: The CAG tract in the AR gene is longer in patients with
nonsyndromic cryptorchidism than in healthy individuals, supporting the
association between this polymorphism of the AR gene and nonsyndromic
cryptorchidism in the Mexican population.
Filiaciones:
Landero-Huerta, Daniel A.:
Laboratorio de Biología de la Reproducción, Instituto Nacional de Pediatría, Ciudad de México, Mexico
Posgrado en Ciencias Naturales e Ingeniería, Universidad Autónoma Metropolitana, Unidad Cuajimalpa, Ciudad de México, Mexico
Vigueras-Villasenor, Rosa M.:
Laboratorio de Biología de la Reproducción, Instituto Nacional de Pediatría, Ciudad de México, Mexico
Taja-Chayeb, Lucia:
Laboratorio de Epigenética, Instituto Nacional de Cancerologiá, Ciudad de México, Mexico
Instituto Nacional de Cancerología, Ciudad de México, Mexico
Garcia-Andrade, Fabiola:
Laboratorio de Biología de la Reproducción, Instituto Nacional de Pediatría, Ciudad de México, Mexico
Arechaga-Ocampo, Elena:
Departamento de Ciencias Naturales, Universidad Autónoma Metropolitana, Unidad Cuajimalpa, Ciudad de México, Mexico
Yokoyama-Rebollar, Emiy:
Departmento de Genética Humana, Instituto Nacional de Pediatriá, Ciudad de México, Mexico
Diaz-Chavez, Jose:
Instituto Nacional de Cancerología, Ciudad de México, Mexico
Herrera, Luis A.:
Unidad de Investigación Biomédica en Cáncer, Instituto Nacional de Cancerologiá-Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, Ciudad de México, Mexico
Instituto Nacional de Medicina Genómica, Ciudad de Mexico, Mexico
Chavez-Saldana, Margarita D.:
Laboratorio de Biología de la Reproducción, Instituto Nacional de Pediatría, Ciudad de México, Mexico
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