目的 研究标记染色体在男性不育中的作用。方法 取先症者及其亲属的外周血淋巴细胞接种于淋巴细胞培养基进行细胞培养,3天后收细胞,制片,G带染色。在显微镜下观察20个分裂相,选取5个分裂相进行分析。对先症者及其家人进行基因芯片检测。结果 本研究的先症者是一名35岁的男性病人,表型正常,结婚7年,性生活正常,未避孕未育,精液检查为重度弱精症。对外周血染色体核型分析,发现其染色体有47条,怀疑可能是标记染色体（small supernumerary marker chromosome,sSMC）携带者。进一步使用芯片检查技术,将其父母染色体设为对照组,结果发现这位原发不育先症者的染色体核型为47,X,Yqh-,+mar mat,确定是sSMC携带者,来源于母亲,为母系遗传。结论 这位原发性不育的先症者为标记染色体携带者,为母系遗传,可能是导致其重度弱精症和不育的原因之一。
Abstract
Objective To examine marker chromosomes' impact on male infertility. Methods Peripheral blood lymphocytes were obtained from the proband and infertile couples, and subsequently cultured in a lymphocyte culture medium. After three days of incubation, the cells were harvested, slides prepared, and G-banding staining performed as per standard cytogenetic protocols. Twenty distinct splitting phases were observed under the SNP array, of which five were selected for further analysis. Gene chip tests were conducted on patients with pre-existing conditions and their family members. Results The patient was a 35 year old man with a normal phenotype, married for 7 years, with a normal sexual life, no contraception use, and no children. The semen analysis indicates severe asthenospermia. The Karyotype analysis of peripheral blood chromosomes showed 47 chromosomes, indicating a potential sSMC carrier. Using chip examination technology and the chromosomes of the patient's parents as a control, further research revealed that the patient with primary infertility had a karyotype of 47, X, Yqh-, +mar mat. It was determined that the patient carried an sSMC inherited maternally from the mother. Conclusion The patient in this study inherited the marker chromosome maternally, which may contribute to his severe asthenospermia and infertility. Diagnosis is more accurate with chromosomal examination, karyotype analysis, and comparison of parental chromosomes.
关键词
标记染色体 /
染色体核型分析 /
基因芯片 /
母系遗传
Key words
small supernumerary marker chromosome /
chromosome karyotype analysis /
DNA microarray /
maternal inheritance
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参考文献
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基金
湖南省科技厅临床医疗技术创新引导项目“复发性流产患者行PGT后精准保胎策略的研究”（2021SK52406）
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