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Analysis of the CAG tract length in the Androgen Receptor gene in Mexican patients with nonsyndromic cryptorchidism
Journal of Pediatric Endocrinology and Metabolism ( IF 1.4 ) Pub Date : 2021-07-01 , DOI: 10.1515/jpem-2020-0378
Daniel A. Landero-Huerta 1, 2 , Rosa M. Vigueras-Villaseñor 1 , Lucía Taja-Chayeb 3 , Fabiola García-Andrade 1 , Elena Aréchaga-Ocampo 4 , Emiy Yokoyama-Rebollar 5 , José Díaz-Chávez 6 , Luis A. Herrera 7, 8 , Margarita D. Chávez-Saldaña 1
Affiliation  

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.

中文翻译:

墨西哥非综合征型隐睾患者雄激素受体基因CAG束长度分析

目的 隐睾症是新生男性中最常见的泌尿生殖系统出生缺陷,被认为是睾丸生殖细胞肿瘤和不孕症的重要危险因素。雄激素受体基因在这种病理学中很重要,因为它主要参与睾丸下降的腹股沟阴囊阶段。我们确定了墨西哥非综合征型隐睾患者的雄激素受体 (AR) 基因中 CAG 束的长度。方法男性1015人;其中,62 人患有非综合征性隐睾症,53 人是健康志愿者。从外周血样本中提取DNA,随后对AR基因外显子1的CAG束进行PCR扩增并测序。结果 墨西哥非综合征性隐睾症患者的 AR 基因中 CAG 束重复率为 25.03 ± 2.58,而 22。墨西哥健康个体的 CAG 道重复 72 ± 3.17 次(p≤0.0001;t 值为 4.3)。此外,首次在非综合征型隐睾患者中发现了与 AR 基因中第 57 位亮氨酸残基(Del L57)缺失相对应的第 57 位密码子缺失。这种分子改变以前与睾丸生殖细胞肿瘤(TGCT)有关。结论 非综合征型隐睾症患者的 AR 基因 CAG 束长于健康个体,支持 AR 基因的这种多态性与墨西哥人群中的非综合征型隐睾症之间存在关联。在非综合征型隐睾症患者中首次发现了与 AR 基因中第 57 位(Del L57)亮氨酸残基缺失相对应的密码子 57 缺失。这种分子改变以前与睾丸生殖细胞肿瘤(TGCT)有关。结论 非综合征型隐睾症患者的 AR 基因 CAG 束长于健康个体,支持 AR 基因的这种多态性与墨西哥人群中的非综合征型隐睾症之间存在关联。在非综合征型隐睾症患者中首次发现了与 AR 基因中第 57 位(Del L57)亮氨酸残基缺失相对应的密码子 57 缺失。这种分子改变以前与睾丸生殖细胞肿瘤(TGCT)有关。结论 非综合征型隐睾症患者的 AR 基因 CAG 束长于健康个体,支持 AR 基因的这种多态性与墨西哥人群的非综合征型隐睾症之间存在关联。
更新日期:2021-07-07
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