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| 11. |
Deletion detection in the dystrophin gene by multiplex gap ligase chain reaction and immunochromatographic strip technology |
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Human Mutation,
Volume 5,
Issue 1,
1995,
Page 86-93
Cynthia Jou,
James Rhoads,
Stanley Bouma,
Shanfun Ching,
Joanell Hoijer,
Pamella Schroeder‐Poliak,
Peter Zaun,
Susan Smith,
Sue Richards,
C. Thomas Caskey,
Julian Gordon,
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摘要:
AbstractThe purpose of this study is to demonstrate the value of a multiplex amplification and readout system. The validation was done using as a model system the detection of deletions in nine possible dystrophin exons: 4, 8, 12, 17, 19, 44, 45, 48, and 51. The amplification system was gap ligase chain reaction, adapted to amplify selected regions of multiple exons simultaneously. The amplified products were read out with an immunochromatographic methodology, adapted from that used in the Abbott product line commercialized under the name Test Pack Plus. In each amplification, the β‐globin gene was incorporated and served as a procedural control. The complete process takes<3 hr from DNA sample to result. The procedure is therefore rapid and simple, as well as being potentially very cost effective. The combination of these two technologies is shown to be a useful tooi for the determination of deletions in the nine exons of the dystrophin gene. The results of a 100‐patient sample study showed concordance with cDNA and PCR in current use. Equivalent performance at two sites was shown. © 1995 Wiley‐Li
ISSN:1059-7794
DOI:10.1002/humu.1380050112
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1995
数据来源: WILEY
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| 12. |
Mitochondrial acetoacetyl‐coenzyme a thiolase gene: A Novel 68‐bp deletion involving 3′ splice site of intron 7, causing exon 8 skipping in a caucasian patient with β‐ketothiolase deficiency |
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Human Mutation,
Volume 5,
Issue 1,
1995,
Page 94-96
Toshiyuki Fukao,
Xiang‐Qian Song,
Seiji Yamaguchi,
Tadao Orii,
Ronald J. A. Wanders,
Bwee. T. Poll‐The,
Takashi Hashimoto,
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ISSN:1059-7794
DOI:10.1002/humu.1380050113
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1995
数据来源: WILEY
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| 13. |
Mutations of the iduronate‐2‐sulfatase gene in 12 Polish. Patients with mucopolysaccharidosis type II (Hunter syndrome) |
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Human Mutation,
Volume 5,
Issue 1,
1995,
Page 97-100
Ewa Popowska,
Michaela Rathmann,
Anna Tylki‐Szymanska,
Susanna Bunge,
Cordula Steglich,
Eberhard Schwinger,
Andreas Gal,
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ISSN:1059-7794
DOI:10.1002/humu.1380050114
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1995
数据来源: WILEY
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| 14. |
A splicing mutation (1898 + 1G→T) in the CFTR gene causing cystic fibrosis |
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Human Mutation,
Volume 5,
Issue 1,
1995,
Page 101-102
Joanna Crawford,
Agatha Labrinidis,
William F. Carey,
Paul V. Nelson,
John S. Harvey,
C. Phillip Morris,
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ISSN:1059-7794
DOI:10.1002/humu.1380050115
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1995
数据来源: WILEY
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| 15. |
Absence of mutations in the apolipoprotein E (APOE) gene of patients with Alzheimer disease |
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Human Mutation,
Volume 5,
Issue 1,
1995,
Page 103-104
P. Seeman,
F. Laccone,
J. Reiss,
G. Stoppe,
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ISSN:1059-7794
DOI:10.1002/humu.1380050116
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1995
数据来源: WILEY
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| 16. |
Rapid nonradioactive assay for the detection of the common French Canadian tyrosinemia type I mutation |
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Human Mutation,
Volume 5,
Issue 1,
1995,
Page 105-105
Markus Grompe,
Muhsen Al‐Dhalimy,
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ISSN:1059-7794
DOI:10.1002/humu.1380050117
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1995
数据来源: WILEY
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| 17. |
Masthead |
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Human Mutation,
Volume 5,
Issue 1,
1995,
Page -
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PDF (92KB)
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ISSN:1059-7794
DOI:10.1002/humu.1380050101
出版商:Wiley Subscription Services, Inc., A Wiley Company
年代:1995
数据来源: WILEY
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