Hadjkacem Lobna, Hadj-Kacem Hassen, Boulila Amel, Bahloul Ali, Ayadi Hammadi, Ammar-Keskes Leila
Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine, Avenue Majida Boulila, 3028 Sfax, Tunisia.
Ann Genet. 2004 Jul-Sep;47(3):217-24. doi: 10.1016/j.anngen.2004.03.010.
Several reports implicated a relation between the trinucleotide (CAG) repeat length in the androgen receptor (AR) gene and male infertility. But such result was not reproduced in others. To test this hypothesis, we investigated the number of (CAG) repeats in the AR gene among two groups of infertile (n = 129) and fertile Tunisian men (n = 98), using polymerase chain reaction (PCR) targeting the AR CAG repeat tract, followed by electrophoresis on polyacrylamide gel (6%). For statistical analysis we used Student, Kolmogorov-Smirnov (KS) and chi(2)-tests. Significance was reached when P < 0.05. No statistically significant difference in the mean length of the CAG repeat was found between infertile and control groups (P = 0.47). Moreover, using KS test, we have not found a difference in the distribution of allele frequencies between infertile and controls (D(obs) = 0.046 < D(crit) = 0.180). We also did not found a statistically significant relationship between the size of the CAG repeat and impaired sperm production in Tunisian population. Our results may be attributed to the high probability that infertile males may represent a heterogeneous group with respect to the causes of defective spermatogenesis.
几份报告表明雄激素受体(AR)基因中的三核苷酸(CAG)重复长度与男性不育之间存在关联。但其他研究并未重现这一结果。为了验证这一假设,我们使用针对AR基因CAG重复序列的聚合酶链反应(PCR),随后在6%的聚丙烯酰胺凝胶上进行电泳,调查了两组突尼斯男性中AR基因的(CAG)重复次数,其中不育男性129例,可育男性98例。我们使用学生检验、柯尔莫哥洛夫-斯米尔诺夫(KS)检验和卡方检验进行统计分析。当P<0.05时具有统计学意义。不育组和对照组之间CAG重复序列的平均长度没有统计学显著差异(P=0.47)。此外,使用KS检验,我们未发现不育组和对照组之间等位基因频率分布存在差异(观察值D=0.046<临界值D=0.180)。我们也未发现突尼斯人群中CAG重复序列的大小与精子生成受损之间存在统计学显著关系。我们的结果可能归因于不育男性在精子发生缺陷原因方面很可能代表一个异质性群体。