Analysis of the CAG tract length in the Androgen Receptor gene in Mexican patients with nonsyndromic cryptorchidism

Author:

Landero-Huerta Daniel A.12,Vigueras-Villaseñor Rosa M.1,Taja-Chayeb Lucía3,García-Andrade Fabiola1,Aréchaga-Ocampo Elena4,Yokoyama-Rebollar Emiy5,Díaz-Chávez José6,Herrera Luis A.78,Chávez-Saldaña Margarita D.1ORCID

Affiliation:

1. Laboratorio de Biología de la Reproducción, Instituto Nacional de Pediatría , Ciudad de México , México

2. Posgrado en Ciencias Naturales e Ingeniería, Universidad Autónoma Metropolitana, Unidad Cuajimalpa , Ciudad de México , México

3. Laboratorio de Epigenética, Instituto Nacional de Cancerología , Ciudad de México , México

4. Departamento de Ciencias Naturales , Universidad Autónoma Metropolitana, Unidad Cuajimalpa , Ciudad de México , México

5. Departmento de Genética Humana , Instituto Nacional de Pediatría , Ciudad de México , México

6. Instituto Nacional de Cancerología Ciudad de México , México

7. Unidad de Investigación Biomédica en Cáncer, Instituto Nacional de Cancerología-Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México , Ciudad de México , México

8. Instituto Nacional de Medicina Genómica , Ciudad de México , México

Abstract

Abstract 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.

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health

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