出生缺陷预防专题 |
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单核苷酸多态性微阵列芯片在早期自然流产绒毛组织遗传学分析中的应用 |
孙义锡, 罗玉琴, 钱叶青, 董旻岳, 金帆 |
浙江大学医学院附属妇产科医院生殖遗传科 生殖遗传教育部重点实验室, 浙江 杭州 31006 |
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Single nucleotide polymorphism-array in genetic analysis of chorionic villi from early spontaneous miscarriages |
SUN Yixi, LUO Yuqin, QIAN Yeqing, DONG Minyue, JIN Fan |
Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Key Laboratory of Reproductive Genetics, Ministry of Education, Hangzhou 310006, China |
[1] RAI R, REGAN L. Recurrent miscarriage[J]. Lancet,2006,368(9535):601-611.
[2] MCNAMEE K, DAWOOD F, FARQUHARSON R G. Evaluation of array comparative genomic hybridization in recurrent miscarriage[J]. Br J Hosp Med(Lond),2013,74(1):36-40.
[3] VAN DEN BERG M M, VAN MAARLE M C, VAN WELY M, et al. Genetics of early miscarriage[J]. Biochim Biophys Acta,2012,1822(12):1951-1959.
[4] WARBURTON D, SUSSER M, STEIN Z, et al. Genetic and epidemiologic investigation of spontaneous abortion:relevance to clinical practice[J]. Birth Defects Orig Artic Ser,1979,15(5A):127-136.
[5] SHEARER B M, THORLAND E C, CARLSON A W, et al. Reflex fluorescent in situ hybridization testing for unsuccessful product of conception cultures:a retrospective analysis of 5555 samples attempted by conventional cytogenetics and fluorescent in situ hybridization[J]. Genet Med,2011,13(6):545-552.
[6] DIEGO-ALVAREZ D, GARCIA-HOYOS M, TRUJILLO M J, et al. Application of quantitative fluorescent PCR with short tandem repeat markers to the study of aneuploidies in spontaneous miscarriages[J]. Hum Reprod,2005,20(5):1235-1243.
[7] SHEN J, WU W, GAO C, et al. Chromosomal copy number analysis on chorionic villus samples from early spontaneous miscarriages by high throughput genetic technology[J]. Mol Cytogenet,2016,9:7.
[8] LATHI R B, MASSIE J A, LORING M, et al. Informatics enhanced SNP microarray analysis of 30 miscarriage samples compared to routine cytogenetics[J/OL]. PLoS One,2012,7(3):e31282.
[9] RACA G, ARTZER A, THORSON L, et al. Array-based comparative genomic hybridization (aCGH) in the genetic evaluation of stillbirth[J]. Am J Med Genet A,2009,149A(11):2437-2443.
[10] LOMAX B, TANG S, SEPAROVIC E, et al. Comparative genomic hybridization in combination with flow cytometry improves results of cytogenetic analysis of spontaneous abortions[J]. Am J Hum Genet,2000,66(5):1516-1521.
[11] 李颖,龚亚飞,刘寒艳,等.微阵列比较基因组杂交检测43例自然流产和死胎的染色体畸变[J].中华医学遗传学杂志,2015,32(3):348-352. LI Ying, GONG Yafei, LIU Hanyan, et al. Detection for chromosomal aberrations in 43 fetuses with spontaneous abortion and stillbirth by array-based comparative genomic hybridization[J]. Chinese Journal of Medical Genetics,2015,32(3):348-352. (in Chinese)
[12] KEARNEY H M, THORLAND E C, BROWN K K, et al. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants[J]. Genet Med,2011,13(7):680-685. |
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