雄激素受体基因CAG重复长度在肥沃和不育突尼斯男子

Lobna Hadjkacem , Hassen Hadj-Kacem , Amel Boulila , Ali Bahloul , Hammadi Ayadi , Leila Ammar-Keskes
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引用次数: 18

摘要

一些报道暗示雄激素受体(AR)基因中的三核苷酸(CAG)重复长度与男性不育之间的关系。但这一结果并没有在其他研究中重现。为了验证这一假设,我们研究了两组不育(n = 129)和可育(n = 98)突尼斯男性(n = 98)的AR基因中CAG重复序列的数量,采用针对AR CAG重复序列的聚合酶链反应(PCR),然后在聚丙烯酰胺凝胶上电泳(6%)。统计分析采用Student检验、Kolmogorov-Smirnov (KS)检验和χ2检验。P <0.05. 不育组与对照组CAG重复序列平均长度差异无统计学意义(P = 0.47)。此外,使用KS检验,我们没有发现不育和对照之间等位基因频率分布的差异(Dobs = 0.046 <Dcrit = 0.180)。在突尼斯人群中,我们也没有发现CAG重复序列的大小与精子产生受损之间有统计学意义的关系。我们的结果可能归因于高概率不育男性可能代表一个异质组相对于精子发生缺陷的原因。
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Androgen receptor gene CAG repeats length in fertile and infertile Tunisian men

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 χ2-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 (Dobs = 0.046 < Dcrit = 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.

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