| 摘要: |
| 目的:分析自然流产史夫妇外周血染色体异常核型的种类及其在男女性中的分布特点。方法:检测2178对自然流产史夫妇外周血淋巴细胞染色体核型,分析比较染色体变异的种类、发生率及其在男、女性中的分布差异。结果:2178对(4356例)自然流产史夫妇中发现染色体异常539例(12.37%),其中男266例,女273例。染色体结构异常87例,其中相互易位最多见为58例(66.7%,58/87),有27例为世界首报染色体结构异常核型。其次为罗伯逊易位13例,倒位6例,插入、缺失等其他异常核型10例。染色体数目异常8例,包括2例标记染色体、1例XYY及5例不同类型的X染色体非整倍体嵌合。多态性改变444例中,D/G组染色体随体区变异最为多见,共271例(61.04%,271/444)。结论:自然流产史夫妇外周血染色体异常均有发生,男女性发生率并无明显差异,染色体异常以相互易位为主。染色体多态性发生率较高,对以自然流产史就诊的夫妇,有必要同时进行染色体检查,有助于病因的分析与诊断,并为临床咨询及后续生殖干预提供依据。 |
| 关键词: 自然流产 核型分析 染色体异常 多态性改变 |
| DOI： |
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| 基金项目:山东省自然科学基金(编号:ZR2014HP047);山东省济南市科学技术发展计划项目(编号:201201054);济南市卫生和计划生育委员会科技发展计划项目(编号:2017-2-05) |
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| Karyotype Analysis of 2178 Couples with Spontaneous Abortions |
| WANG Jin;TAO Jing;LU Ting;CAI Yan |
| (Ji’nan Maternity and Child Care Hospital) |
| Abstract: |
| Objective: To analyze the types and distribution characteristics of abnormal karyotypes of peripheral blood in couples with spontaneous abortion. Methods: The chromosome karyotype analysis of peripheral lymphocytes in 2178 couples with spontaneous abortion was performed. The incidence,types and sex distribution were analyzed and compared.Results: In all,abnormal karyotypes were found in 539 cases( 12. 37%)( 266 males and273 females).The abnormalities in chromosome structure were detected in 87 cases.The most frequent type was reciprocal translocation( n = 58,66. 7%),among which 27 cases were the abnormal karyotype which was first reported in the world.following by Robertson translocation( n = 13),inversion( n = 6) and 10 cases of other abnormal karyotypes such as insertion and deletion.The abnormalities in number of chromosome were detected in 8 cases,including mark chromosome( n = 2),1 cases of XYY,and 5 cases of mosaic X chromosome aneuploidy. Among the 444 cases of chromosome polymorphic,satellite variation on D and G chromosome was the most common( n=271,61. 04%).Conclusions: The chromosomal abnormalities in male and female of the couples with spontaneous abortion have been observed. There is no significant difference between male and female,and reciprocal translocation is the most frequent chromosomal abnormalities.In addition,chromosome polymorphism had a higher incidence of couples with spontaneous abortion,it is necessary to undergo peripheral blood karyotype analysis at the mean time.It is contribute to analysis and diagnosis of the cause of disease,and provides the basis for clinical consultation and reproductive intervention |
| Key words: Spontaneousabortion Karyotyping Chromosomalabnormalities Polymorphism |
