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目的:探讨在自然生育条件下Y染色体AZFc区缺失来源,同时进行断点序列比对来分析断点的位置。方法:通过对AZF区22个序列标签位点(STS)多重PCR扩增,检测家系样本缺失情况。结果:17例AZFc区缺失家系中,13例为新生突变,突变率为76.47%;4例为垂直传递,遗传率为23.53%。新生突变和垂直传递患者在年龄、生殖激素水平及睾丸体积组间差异无统计学意义(P<0.05)。近端缺失断点多集中于sY1197、sY1191,远端多集中于sY157、sY1054。结论:AZFc区缺失患者绝大多数为新生突变,且新生突变与垂直传递患者无明显差别;AZFc区缺失近、远端缺失断点多集中于复制子b2和b4。
OBJECTIVE: To investigate the source of deletion of AZFc region of Y chromosome under natural reproductive conditions, and to analyze the location of breakpoints by sequence comparison of breakpoints. Methods: The deletions of pedigree samples were detected by multiplex PCR amplification of 22 sequence tagging sites (STS) in AZF region. Results: Of the 17 families with deletion of AZFc, 13 were newborn mutations with a mutation rate of 76.47%. Four cases were vertical transmission with a heritability of 23.53%. Neonatal mutation and vertical transmission in patients with age, reproductive hormone levels and testicular volume difference was not statistically significant (P <0.05). Near-end breakpoints and more concentrated in sY1197, sY1191, more distal focus on sY157, sY1054. CONCLUSION: Most of the patients with AZFc deletion are newborn, and there is no significant difference between the newborn mutation and vertical transmission. The deletion of AZFc and the deletion of the distal deletion mostly focus on the replicons b2 and b4.