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学科主题: 基础医学
题名:
Genetic analysis of first-trimester miscarriages with a combination of cytogenetic karyotyping, microsatellite genotyping and arrayCGH
作者: Zhang, Y-X2,3; Zhang, Y-P4; Gu, Y.4; Guan, F-J5; Li, S-L5; Xie, J-S5; Shen, Y.6; Wu, B-L6; Ju, W.1; Jenkins, E. C.1; Brown, W. T.1; Zhong, N.1,2,3
关键词: arrayCGH ; Chinese population ; chromosome abnormality ; comprehensive genetic study ; deletion and duplication ; first trimester ; genetic counseling ; microsatellite ; miscarriage
刊名: CLINICAL GENETICS
发表日期: 2009-02-01
DOI: 10.1111/j.1399-0004.2008.01131.x
卷: 75, 期:2, 页:133-140
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity
研究领域[WOS]: Genetics & Heredity
关键词[WOS]: COMPARATIVE GENOMIC HYBRIDIZATION ; CONFINED PLACENTAL MOSAICISM ; SPONTANEOUS-ABORTIONS ; CHROMOSOME-ABNORMALITIES ; PERICENTRIC-INVERSION ; MEIOTIC RECOMBINATION ; GROWTH RESTRICTION ; CULTURE FAILURES ; MATERNAL AGE ; Y-CHROMOSOME
英文摘要:

Zhang Y-X, Zhang Y-P, Gu Y, Guan F-J, Li S-L, Xie J-S, Shen Y, Wu B-L, Ju W, Jenkins EC, Brown WT, Zhong N. Genetic analysis of first-trimester miscarriages with a combination of cytogenetic karyotyping, microsatellite genotyping and arrayCGH.Clin Genet 2009: 75: 133-140. (C) Blackwell Munksgaard, 2009

Miscarriage is the spontaneous loss of an embryo or fetus before the 20th week of pregnancy. Most miscarriages occur before the end of the first trimester (< 13 weeks). Although many risk factors relate to this occurrence, genetic factors play the most important role. Chromosomal abnormalities, including both numerical and structural anomalies, underlie the majority of miscarriages. In this study, we employed a comprehensive approach using cytogenetic karyotyping, polymerase chain reaction (PCR)-based genotyping, and microarray-based comparative genomic hybridization (arrayCGH) in combination to analyze chromosomal profiles of 115 first-trimester miscarriages of Chinese women. Seventy cases (61%) were found to have chromosomal anomalies, of which 90% were numerical and 10% were structural. Cytogenetic karyotyping identified 78.6% (55/70), PCR assays 2.9% (2 triploids), and arrayCGH 18.6% (13/70) of the anomalies. In this study, a microdeletion of 108 kb and four microduplications sizing from 300 to 1460 kb were observed. An advantage of using this combination approach is that microsatellite genotyping and arrayCGH can be accomplished in spite of culture failure and maternal cell contamination. In addition, arrayCGH can detect submicroscopic chromosomal anomalies and gene dosage alterations.

语种: 英语
所属项目编号: 985-2-035-39 ; 2007CB511902 ; 30671157
项目资助者: Chinese Ministry of Education ; Chinese Ministry of Science and Technology ; China National Nature Science Foundation ; March of Dimes Foundation ; New York State Office of Mental Retardation and Developmental Disabilities (NYS OMRDD) ; Shenzhen Bureau of Science Technology and Information
WOS记录号: WOS:000262665700007
Citation statistics:
内容类型: 期刊论文
版本: 出版稿
URI标识: http://ir.bjmu.edu.cn/handle/400002259/65362
Appears in Collections:基础医学院_北京大学医学遗传中心_期刊论文

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作者单位: 1.Peking Univ, Ctr Med Genet, Beijing 100871, Peoples R China
2.Haidian Dist Matern & Children Healthcare Hosp, Beijing, Peoples R China
3.New York State Inst Basic Res Dev Disabil, Dept Human Genet, Staten Isl, NY 10314 USA
4.Peking Univ, Hlth Sci Ctr, Dept Med Genet, Beijing 100871, Peoples R China
5.Shenzhen Matern & Children Healthcare Hosp, Ctr Prenatal Diag, Shenzhen, Peoples R China
6.Harvard Univ, Childrens Hosp, Boston, MA 02115 USA

Recommended Citation:
Zhang, Y-X,Zhang, Y-P,Gu, Y.,et al. Genetic analysis of first-trimester miscarriages with a combination of cytogenetic karyotyping, microsatellite genotyping and arrayCGH[J]. CLINICAL GENETICS,2009,75(2):133-140.
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