学科主题基础医学
Genetic analysis of first-trimester miscarriages with a combination of cytogenetic karyotyping, microsatellite genotyping and arrayCGH
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
2009-02-01
DOI10.1111/j.1399-0004.2008.01131.x
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
WOS记录号WOS:000262665700007
项目编号985-2-035-39 ; 2007CB511902 ; 30671157
资助机构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
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被引频次:39[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
版本出版稿
条目标识符http://ir.bjmu.edu.cn/handle/400002259/65362
专题北京大学基础医学院_北京大学医学遗传中心
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
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GB/T 7714
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.
APA Zhang, Y-X.,Zhang, Y-P.,Gu, Y..,Guan, F-J.,Li, S-L.,...&Zhong, N..(2009).Genetic analysis of first-trimester miscarriages with a combination of cytogenetic karyotyping, microsatellite genotyping and arrayCGH.CLINICAL GENETICS,75(2),133-140.
MLA Zhang, Y-X,et al."Genetic analysis of first-trimester miscarriages with a combination of cytogenetic karyotyping, microsatellite genotyping and arrayCGH".CLINICAL GENETICS 75.2(2009):133-140.
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