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Direct PCR from CVS and blood lysates for detection of cystic fibrosis and Duchenne muscular dystrophy deletions.

作者信息

Balnaves M E, Nasioulas S, Dahl H H, Forrest S

机构信息

Victorian Clinical Genetics Service, Murdoch Institute, Royal Children's Hospital, Parkville, Australia.

出版信息

Nucleic Acids Res. 1991 Mar 11;19(5):1155. doi: 10.1093/nar/19.5.1155.

DOI:10.1093/nar/19.5.1155
PMID:2020553
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC333801/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1364/333801/3233ff0b3a8c/nar00241-0175-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1364/333801/3233ff0b3a8c/nar00241-0175-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1364/333801/3233ff0b3a8c/nar00241-0175-a.jpg

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1
Direct PCR from CVS and blood lysates for detection of cystic fibrosis and Duchenne muscular dystrophy deletions.
Nucleic Acids Res. 1991 Mar 11;19(5):1155. doi: 10.1093/nar/19.5.1155.
2
[The polymerase chain reaction PCR and its use in genetic diagnosis].
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3
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5
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Clin Chem. 1990 Oct;36(10):1756-9.
6
Molecular diagnosis of Duchenne muscular dystrophy by use of a conformational polymorphism in the absence of DNA from an affected boy.在缺乏患病男孩DNA的情况下，利用构象多态性对杜氏肌营养不良进行分子诊断。
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Prenatal Diagnosis of Merosin-Deficient Muscular Dystrophy.
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Fluorescence resonance energy transfer-based real-time polymerase chain reaction method without DNA extraction for the genotyping of F5, F2, F12, MTHFR, and HFE.基于荧光共振能量转移的实时聚合酶链反应方法，无需DNA提取即可对F5、F2、F12、亚甲基四氢叶酸还原酶和遗传性血色素沉着症基因进行基因分型。
J Blood Med. 2014 Jun 25;5:99-106. doi: 10.2147/JBM.S64976. eCollection 2014.
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Evidence for effective suppression of recombination in the chromosome 17q21 segment spanning RNU2-BRCA1.在跨越RNU2 - BRCA1的17号染色体q21区段有效抑制重组的证据。
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In Finland insulin gene region encoded susceptibility to IDDM exerts maximum effect when there is low HLA-DR associated risk. DiMe (Childhood Diabetes in Finland) Study Group.

本文引用的文献

1
Identification of the cystic fibrosis gene: genetic analysis.囊性纤维化基因的鉴定：遗传分析
Science. 1989 Sep 8;245(4922):1073-80. doi: 10.1126/science.2570460.
2
Direct PCR from whole blood, without DNA extraction.无需提取DNA，直接从全血中进行聚合酶链反应。
Nucleic Acids Res. 1990 Oct 11;18(19):5908. doi: 10.1093/nar/18.19.5908.
在芬兰，胰岛素基因区域编码的对胰岛素依赖型糖尿病的易感性，在HLA - DR相关风险较低时发挥最大作用。芬兰儿童糖尿病（DiMe）研究小组。
Diabetologia. 1995 Oct;38(10):1223-9. doi: 10.1007/BF00422373.
4
Positive association in the absence of linkage suggests a minor role for the glucokinase gene in the pathogenesis of type 2 (non-insulin-dependent) diabetes mellitus amongst south Indians.在无连锁关系情况下的正相关表明，葡萄糖激酶基因在南印度人2型（非胰岛素依赖型）糖尿病发病机制中起次要作用。
Diabetologia. 1993 Jul;36(7):633-41. doi: 10.1007/BF00404073.
5
Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene.1型酪氨酸血症——延胡索酰乙酰乙酸酶基因中的复杂剪接缺陷和一个错义突变
Hum Genet. 1994 Sep;94(3):235-9. doi: 10.1007/BF00208276.
6
Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase.两个错义突变导致1型酪氨酸血症，伴有或不伴有免疫反应性延胡索酰乙酰乙酸酶。
Hum Genet. 1994 Jun;93(6):615-9. doi: 10.1007/BF00201558.
7
Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.在富马酰乙酰乙酸酯酶基因中鉴定出一种常见的假缺陷突变，对I型酪氨酸血症的诊断具有重要意义。
Am J Hum Genet. 1994 Dec;55(6):1122-7.
8
Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1.富马酰乙酰乙酸酯酶基因中的新型剪接、错义及无义突变导致1型酪氨酸血症。
Am J Hum Genet. 1994 Oct;55(4):653-8.
9
A gene in the HLA class I region contributes to susceptibility to IDDM in the Finnish population. Childhood Diabetes in Finland (DiMe) Study Group.HLA I类区域中的一个基因与芬兰人群中患胰岛素依赖型糖尿病的易感性有关。芬兰儿童糖尿病（DiMe）研究小组。
Diabetologia. 1994 Sep;37(9):937-44. doi: 10.1007/BF00400951.
10
Molecular biology made easy. The polymerase chain reaction.轻松掌握分子生物学。聚合酶链反应。
Histochem J. 1992 Dec;24(12):913-26. doi: 10.1007/BF01046497.