Developing a one-step triplet-repeat primed PCR assay for diagnosing myotonic dystrophy

Xiaoping Lan^{a, b, c, d, #},
Na Li^{e, #},
Hongling Wan^{c, #},
Lintong Luo^c,
Yiming Wu^{a, b},
Sanxiang Li^c,
Yu An^f,
Bai-Lin Wu^{a, b, g
, ,}

a.
Children's Hospital of Fudan University, Shanghai 201102, China
b.
Institute of Biomedical Sciences and Department of Pathology, Shanghai Medical College of Fudan University, Shanghai 200032, China
c.
College of Bioengineering and Technology, Tianshui Normal University, Tianshui 741001, China
d.
Molecular Diagnostic Laboratory, Children's Hospital of Shanghai Jiao Tong University, Shanghai 200040, China
e.
College of Life Science and Technology, Longdong University, Qingyang 745000, China
f.
MOE Key Laboratory of Contemporary Anthropology, Fudan University, Shanghai 200433, China
g.
Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA

More Information

Corresponding author: E-mail address: bai-lin.wu@childrens.harvard.edu (Bai-Lin Wu)

These authors contributed equally to this work.

摘要

These authors contributed equally to this work.

注释:

HTML全文

参考文献(23)

[1]	Addis, M., Serrenti, M., Meloni, C. et al. Triplet-primed PCR is more sensitive than Southern blotting-long PCR for the diagnosis of myotonic dystrophy type1 Genet. Test. Mol. Biomarkers, 16 (2012),pp. 1428-1431
[2]	Arsenault, M.E., Prevost, C., Lescault, A. et al. Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions Neurology, 66 (2006),pp. 1248-1250
[3]	Braida, C., Stefanatos, R.K., Adam, B. et al. Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients Hum. Mol. Genet., 19 (2010),pp. 1399-1412
[4]	Brook, J.D., McCurrach, M.E., Harley, H.G. et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′end of a transcript encoding a protein kinase family member Cell, 68 (1992),pp. 799-808
[5]	Chakraborty, S., Vatta, M., Bachinski, L.L. et al. Molecular diagnosis of myotonic dystrophy Curr. Protoc. Hum. Genet., 91 (2016)
[6]	Cheng, S., Barcelo, J.M., Korneluk, R.G. Characterization of large CTG repeat expansions in myotonic dystrophy alleles using PCR Hum. Mutat., 7 (1996),pp. 304-310
[7]	Falk, M., Vojtiskova, M., Lukas, Z. et al. Simple procedure for automatic detection of unstable alleles in the myotonic dystrophy and Huntington's disease loci Genet. Test., 10 (2006),pp. 85-97
[8]	Harley, H.G., Rundle, S.A., MacMillan, J.C. et al. Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy Am. J. Hum. Genet., 52 (1993),pp. 1164-1174
[9]	International Myotonic Dystrophy Consortium New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1) Neurology, 54 (2000),pp. 1218-1221
[10]	Kamsteeg, E.J., Kress, W., Catalli, C. et al. Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2 Eur. J. Hum. Genet., 20 (2012),pp. 1203-1208
[11]	Leeflang, E.P., Arnheim, N. A novel repeat structure at the myotonic dystrophy locus in a 37 repeat allele with unexpectedly high stability Hum. Mol. Genet., 4 (1995),pp. 135-136
[12]	Lian, M., Rajan-Babu, I.-S., Singh, K. et al. Efficient and highly sensitive screen for myotonic dystrophy type 1 using a one-step triplet-primed PCR and melting curve assay J. Mol. Diagn., 17 (2015),pp. 128-135
[13]	Mahadevan, M., Tsilfidis, C., Sabourin, L. et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene Science, 255 (1992),pp. 1253-1255
[14]	Musova, Z., Mazanec, R., Krepelova, A. et al. Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene Am. J. Med. Genet., 149A (2009),pp. 1365-1374
[15]	Pearson, C.E., Sinden, R.R. Alternative structures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile X loci Biochemistry, 35 (1996),pp. 5041-5053
[16]	Radvansky, J., Ficek, A., Kadasi, L. Mol. Cell. Probes, 25 (2011),pp. 182-185
[17]	Radvansky, J., Ficek, A., Minarik, G. et al. Effect of unexpected sequence interruptions to conventional PCR and repeat primed PCR in myotonic dystrophy type 1 testing Diagn. Mol. Pathol., 20 (2011),pp. 48-51
[18]	Salehi, L.B., Bonifazi, E., Stasio, E.D. et al. Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients Genet. Test., 11 (2007),pp. 84-90
[19]	Savic Pavicevic, D., Miladinovic, J., Brkusanin, M. et al. Molecular genetics and genetic testing in myotonic dystrophy type 1 BioMed Res. Int., 2013 (2013),pp. 1-13
[20]	Singh, S., Zhang, A., Dlouhy, S. et al. Detection of large expansions in myotonic dystrophy type 1 using triplet primed PCR Front. Genet., 5 (2014),p. 94
[21]	Suominen, T., Bachinski, L.L., Auvinen, S. et al. Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland Eur. J. Hum. Genet., 19 (2011),pp. 776-782
[22]	Thomas, D.B.
[23]	Warner, J.P., Barron, L.H., Goudie, D. et al. A general method for the detection of large CAG repeat expansions by fluorescent PCR J. Med. Genet., 33 (1996),pp. 1022-1026

施引文献

资源附件(0)

访问统计

点击查看大图

计量

文章访问数: 119
HTML全文浏览量: 28
PDF下载量: 2
被引次数: 0

姓名
邮箱
手机号码
标题
留言内容
验证码

留言板

doi: 10.1016/j.jgg.2018.06.008

计量

Developing a one-step triplet-repeat primed PCR assay for diagnosing myotonic dystrophy

Corresponding author: E-mail address: bai-lin.wu@childrens.harvard.edu (Bai-Lin Wu)

计量

目录

留言板

doi: 10.1016/j.jgg.2018.06.008

计量

出版历程

Developing a one-step triplet-repeat primed PCR assay for diagnosing myotonic dystrophy

Corresponding author: E-mail address: bai-lin.wu@childrens.harvard.edu (Bai-Lin Wu)

计量

出版历程

目录