摘要
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：The purpose of this study was to provide data to genetic counselling and reproductive guidance through investigate the abnormal structure types of chromosomes in peripheral blood leukocytes and the probable correlations between abnormal chromosomes and diseases. Methods：According to the criteria ISCN 2009,counted 30 and analyzed 5 metaphases. When 1 structure abnormal metaphase was found,enlarged the metaphase number count to 100. Only 1 in 100 abnormal structure metaphase was found was defined as sporadic structure abnormal metaphase. Retrospective analyzed these patients who accepted karyotype analysis between July 2010 and March 2015 and collected the medical records of patients with sporadic structure abnormal chromosomes. Results：24 cases of sporadic structure abnormal chromosomes patients were detected from 1832 cases patients who accepted karyotype analysis,the abnormal rate is 1.3%. 18 in 24（75%）were correlated with infertility and abortion. In these abnormal metaphases,chromosomes 1,2,3,5,6,7,8,9,10,11,12,14,15 were involved in structural aberration. In these structural aberration metaphases,translocation was the most common abnormal and t（7;14）was the most common translocations（8/14）,followed by partial chromosome deletion,which accounted for 9/24. Conclusion：Sporadic structural abnormal chromosomes in peripheral blood were associated with abortion and infertility. In these abnormal chromosome types,t（7;14）was the most common one. The results of this study reveal that the detection of sporadic structural abnormal chromosomes plays an important role in reproductive guidance,clinical genetic counselling and prenatal diagnosis.
出处
《中国优生与遗传杂志》
2016年第4期44-45,70,共3页
Chinese Journal of Birth Health & Heredity
关键词
外周血单个细胞
散发性染色体结构异常
染色体易位
Single cell in peripheral blood
Sporadic structural abnormal chromosomes
Translocation
