SIMULTANEOUS DETECTION OF 14 ITALIAN CYSTIC-FIBROSIS MUTATIONS IN 7 EXONS BY REVERSE DOT-BLOT ANALYSIS

被引：4

作者：

RADY, M

DALCAMO, E

SEIA, M

IAPICHINO, L

FERARI, M

RUSSO, S

ROMEO, G

MAGGIO, A

机构：

[1] OSPED V CERVELLO,SERV TALASSEMIA,PALERMO,ITALY

[2] IST GIANNINA GASLINI,I-16148 GENOA,ITALY

[3] ICP,RECERCHE CLIN LAB,MILAN,ITALY

[4] OSPED BAMBINI BRESCIA,SERV FIBROSI CIST,PALERMO,ITALY

[5] HS RAFFAELE,DEPT LAB MED,MILAN,ITALY

[6] HS RAFFAELE,DIBIT,MILAN,ITALY

来源：

MOLECULAR AND CELLULAR PROBES | 1995年 / 9卷 / 05期

关键词：

D O I：

10.1016/S0890-8508(95)91684-9

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

The increasing number of cystic fibrosis (CF) mutations is a great obstacle to the use of DNA procedures in the detection of gene defects. We describe a fast, cheap and non-radioactive procedure, Reverse dot-blot analysis (RDB), for the simultaneous detection of CF mutations in the Italian population. We used this approach to study seven exons of the CF gene for 14 CF gene defects and were able to characterize 222 of 272 CF chromosomes (80%). The cost of the procedure was $25 per sample analysed. (C) 1995 Academic Press Limited

引用

页码：357 / 360

页数：4

共 32 条

[1] A REVERSE DOT-BLOT HYBRIDIZATION ASSAY ALLOWS SIMULTANEOUS AND RAPID SCREENING OF 32 CYSTIC-FIBROSIS MUTATIONS
CAI, SP
WALL, J
KAN, YW
CHEHAB, FF
AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (03) : 1481 - 1481
[2] SIMULTANEOUS SCREENING FOR 11 MUTATIONS IN THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE BY MULTIPLEX AMPLIFICATION AND REVERSE DOT-BLOT
CUPPENS, H
BUYSE, I
BAENS, M
MARYNEN, P
CASSIMAN, JJ
MOLECULAR AND CELLULAR PROBES, 1992, 6 (01) : 33 - 39
[3] DETECTION OF MULTIPLE CYSTIC-FIBROSIS MUTATIONS BY REVERSE DOT BLOT HYBRIDIZATION - A TECHNOLOGY FOR CARRIER SCREENING
CHEHAB, FF
WALL, J
HUMAN GENETICS, 1992, 89 (02) : 163 - 168
[4] REVERSE DOT-BLOT DETECTION OF THAI BETA-THALASSEMIA MUTATIONS
SUTCHARITCHAN, P
SAIKI, R
FUCHAROEN, S
WINICHAGOON, P
ERLICH, H
EMBURY, SH
BRITISH JOURNAL OF HAEMATOLOGY, 1995, 90 (04) : 809 - 816
[5] Accuracy of Reverse Dot-Blot PCR in Detection of Different β-Globin Gene Mutations
El-Fadaly, N.
Abd-Elhameed, A.
Abd-Elbar, E.
El-Shanshory, M.
INDIAN JOURNAL OF HEMATOLOGY AND BLOOD TRANSFUSION, 2016, 32 (02) : 239 - 243
[6] Accuracy of Reverse Dot-Blot PCR in Detection of Different β-Globin Gene Mutations
N. EL-Fadaly
A. Abd-Elhameed
E. Abd-Elbar
M. El-Shanshory
Indian Journal of Hematology and Blood Transfusion, 2016, 32 : 239 - 243
[7] DETECTION OF 98.5-PERCENT OF THE MUTATIONS IN 200 BELGIAN CYSTIC-FIBROSIS ALLELES BY REVERSE DOT-BLOT AND SEQUENCING OF THE COMPLETE CODING REGION AND EXON/INTRON JUNCTIONS OF THE CFTR GENE
CUPPENS, H
MARYNEN, P
DEBOECK, C
CASSIMAN, JJ
GENOMICS, 1993, 18 (03) : 693 - 697
[8] REVERSE DOT-BLOT DETECTION OF THE AFRICAN-AMERICAN BETA-THALASSEMIA MUTATIONS
SUTCHARITCHAN, P
SAIKI, R
HUISMAN, THJ
KUTLAR, A
MCKIE, V
ERLICH, H
BLOOD, 1995, 86 (04) : 1580 - 1585
[9] DEVELOPMENT AND EVALUATION OF A SIMPLIFIED DOT-BLOT METHOD FOR DETECTING THE DELTA-F508 MUTATION IN CYSTIC-FIBROSIS
SKOGERBOE, KJ
WEST, SF
MURILLO, MD
TAIT, JF
CLINICAL CHEMISTRY, 1990, 36 (11) : 1984 - 1986
[10] THE MOLECULAR DIAGNOSTICS OF CYSTIC-FIBROSIS IN THE CLINICAL LABORATORY BY COLOR PCR AND AN IMPROVED METHOD OF REVERSE DOT BLOT HYBRIDIZATION
CHEHAB, FF
WALL, J
EVANS, ME
KAN, YW
AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 49 (04) : 206 - 206

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