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目的分析外周血中单个细胞染色体结构畸变的类型及其可能与疾病的相关关系,旨在为临床遗传咨询和健康生育指导提供实验室依据。方法按照ISCN2009标准,计数30个染色体中期分裂相,分析其中5个,发现结构畸变染色体后扩大计数至100个,以100个中期相中发现1个染色体结构异常的中期相为诊断散发性染色体结构畸变的标准。回顾性分析我院2010年7月-2015年3月期间的外周血染色体检查标本,同时收集染色体结构异常病人的相关病历资料与染色体结构异常类型进行相关性分析。结果在送检的1832例标本中,共检出散发性染色体结构畸变的病例24例,检出率为1.3%;其中18例与流产和不孕有关,占异常病例的75%。异常染色体涉及到1,2,3,5,6,7,8,9,10,11,12,14,15号染色体结构畸变等;其中畸变类型以易位(translocation)为主(14/24),其次为染色体部分缺失(9/24),其中t(7;14)为最常见易位类型(8/14)。结论外周血散发性染色体结构畸变可能与流产和不育具有一定相关性,其中以易位核型t(7;14)为最常见的畸变类型,应引起高度重视。外周血单个细胞染色体结构畸变的检测对健康生育指导、临床遗传咨询和产前诊断等方面具有重要的临床和社会现实意义。
Objective To analyze the types of chromosomal aberrations in single cells in peripheral blood and their possible relationship with diseases so as to provide a laboratory basis for clinical genetic counseling and guidance on healthy reproduction. Methods According to the ISCN2009 standard, 30 metaphase chromosomes were counted and 5 of them were analyzed. The number of chromosomes with structural aberrations was enumerated and enlarged to 100. One metaphase of the chromosomal abnormalities was found in 100 metaphase and was diagnosed as sporadic chromosome structure The standard of distortion. Retrospective analysis of our hospital from July 2010 to March 2015 period of peripheral blood chromosomal specimens collected at the same time the relevant chromosomal abnormalities in patients with medical records and chromosome abnormalities were analyzed. Results Among the 1832 samples examined, 24 cases of sporadic chromosome structural aberrations were detected, the detection rate was 1.3%. Among them, 18 cases were related to abortion and infertility, accounting for 75% of the abnormal cases. Aberrant chromosomes involved chromosome 1, 2, 3, 5, 6, 7, 8, 9, 10, 11, 12, 14, and 15. Among them, the aberration types were mainly translocation ), Followed by chromosome deletion (9/24), of which t (7; 14) was the most common type of translocation (8/14). Conclusions The structural aberrations of sporadic chromosomes in peripheral blood may be related to abortion and infertility. T (7; 14) is the most common type of aberrations and should be highly valued. The detection of chromosomal structural aberrations in peripheral blood mononuclear cells has important clinical and social significance in terms of guidance on health, clinical genetic counseling and prenatal diagnosis.