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目的对208例男性不育患者进行遗传学分析,探讨染色体畸变、Y染色体微小缺失与男性不育的关系。方法采用外周血染色体核型分析技术对208例男性不育患者进行染色体核型分析,再利用改良多重PCR技术对染色体核型正常患者进行Y染色体AZF区域检测。结果 208例男性不育患者中,发现染色体异常者36例,占17.31%;Y染色体微小缺失者6例,占2.88%。结论染色体畸变及Y染色体微小缺失与男性不育关系紧密,染色体核型分析技术与Y染色体AZF检测技术相结合可提高男性不育患者的诊断水平与遗传异常检出率。
Objective To analyze 208 cases of male infertility patients with genetic analysis of chromosomal aberrations, Y chromosome defects and male infertility. Methods Chromosomal karyotype analysis was performed in 208 male infertile patients by using peripheral blood chromosomal karyotyping technique. The Y chromosome AZF region was detected in patients with normal karyotype by using multiplexed PCR. Results Of the 208 cases of male infertility, 36 cases were found abnormal chromosomal abnormalities, accounting for 17.31%; 6 cases were Y chromosome minor missing, accounting for 2.88%. Conclusion Chromosomal aberrations and small deletions of Y chromosome are closely related to male infertility. The combination of chromosomal karyotyping and Y chromosome AZF detection can improve the diagnosis and genetic abnormality detection rate of male infertility patients.