Calleja Macías Itzel Eevelyn, Martínez Garza Sandra Guadalupe, Gallegos Rivas Mayra Celina, Ortíz López Rocío, Gómez Guerra Lauro, Barrera Saldaña Hugo A, Gutiérrez Gutiérrez Antonio M
Instituto de Ciencias en Reproducción Humana (Vida), León Guanajuato.
Ginecol Obstet Mex. 2003 Jan;71:25-31.
Identifying the genetic causes of male infertility is very important, considering they account for 30-50% of reproductive problems among couples. Genetic abnormalities, among which Y chromosome microdeletions are found, are commonly detected in patients with non-obstructive azoospermia (0-4.3%). Most of these patients are eligible for intracytoplasmic sperm injection (ICSI) and this genetic defect can be inherited by male children.
Determining the prevalence of microdeletions in the Y chromosome in a group of Mexican patients presenting azoospermia and oligospermia, under treatment in the Infertility Clinics.
This study included 52 infertile men (cases): 36 with non-obstructive azoospermia, and 16 with oligospermia; and 50 men (controls) whose fertility had been validated. The genomic DNA of each individual was obtained from his EDTA and heparin treated blood, and the corresponding karyotype determined. The karyotype was analyzed using G banding techniques. Eighteen markers (STS) corresponding to the chromosome Y long arm (AZFa, b, c, and d zones) were amplified in each DNA sample in all cases--azoospermic, oligospermic and controls--using the PCR method.
No chromosomal alterations were detected in the patients, and no Y chromosome microdeletions were detected in control cases. Five azoospermic patients (13.9%) presented microdeletions corresponding to the AZFb, c, and d zones, while no microdeletions were found in oligospermic patients. The frequency of microdeletions found in this study is very similar to that reported for other populations.
This research not only reports the frequency of microdeletions in the Y chromosome in our population, but also contributes to the integration of a DNA bank for patients with idiopathic male infertility, which will be of great use in the search for the causes of this affection.
鉴于男性不育占夫妻生殖问题的30 - 50%，确定男性不育的遗传原因非常重要。在非梗阻性无精子症患者中通常能检测到遗传异常，其中发现了Y染色体微缺失（0 - 4.3%）。这些患者中的大多数适合进行卵胞浆内单精子注射（ICSI），并且这种遗传缺陷可由男性子代遗传。
确定在不育症诊所接受治疗的一组患有无精子症和少精子症的墨西哥患者中Y染色体微缺失的患病率。
本研究纳入52名不育男性（病例组）：36例非梗阻性无精子症患者和16例少精子症患者；以及50名生育能力已得到验证的男性（对照组）。从每位个体经乙二胺四乙酸（EDTA）和肝素处理的血液中获取基因组DNA，并确定相应的核型。使用G带技术分析核型。在所有病例（无精子症、少精子症和对照组）的每个DNA样本中，使用聚合酶链反应（PCR）方法扩增对应于Y染色体长臂（AZFa、b、c和d区）的18个标记（序列标签位点，STS）。
在患者中未检测到染色体改变，在对照组中未检测到Y染色体微缺失。5例无精子症患者（13.9%）出现对应于AZFb、c和d区的微缺失，而少精子症患者未发现微缺失。本研究中发现的微缺失频率与其他人群报道的频率非常相似。
本研究不仅报告了我国人群中Y染色体微缺失的频率，还为特发性男性不育患者建立DNA库做出了贡献，这将对寻找该疾病的病因有很大帮助。
