FABRY DISEASE - DETECTION OF 13-BP DELETION IN ALPHA-GALACTOSIDASE-A GENE AND ITS APPLICATION TO GENE DIAGNOSIS OF HETEROZYGOTES

被引：23

作者：

ISHII, S

SAKURABA, H

SHIMMOTO, M

MINAMIKAWATACHINO, R

SUZUKI, T

SUZUKI, Y

机构：

[1] TOKYO METROPOLITAN INST MED SCI,CTR COMP,TOKYO 113,JAPAN

[2] GUNMA UNIV,SCH MED,DEPT INTERNAL MED 2,MAEBASHI,GUNMA 371,JAPAN

来源：

ANNALS OF NEUROLOGY | 1991年 / 29卷 / 05期

关键词：

D O I：

10.1002/ana.410290517

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Polymerase chain reaction amplification of reverse-transcribed messenger RNA from a patient with Fabry disease revealed a 13-base pair deletion in the 5' region (exon 1) of alpha-galactosidase A complementary DNA. This gene rearrangement was not detected by Southern or Northern analysis. Short direct repeats were present around the breakpoints, and considered to be of pathogenetic significance. Gene diagnosis of the mother and a female cousin was successfully achieved by polymerase chain reaction amplification of genomic DNA; the former as a Fabry disease heterozygote and the latter as a normal homozygote.

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页码：560 / 564

页数：5

相关论文

共 28 条

[1]

ALDRIDGE J, 1984, AM J HUM GENET, V36, P546

[2]

ANDERSON MA, 1984, IN VITRO CELL DEV B, V20, P856

[3] FABRY DISEASE - 6 GENE REARRANGEMENTS AND AN EXONIC POINT MUTATION IN THE ALPHA-GALACTOSIDASE GENE [J].

BERNSTEIN, HS ;

BISHOP, DF ;

ASTRIN, KH ;

KORNREICH, R ;

ENG, CM ;

SAKURABA, H ;

DESNICK, RJ .

JOURNAL OF CLINICAL INVESTIGATION, 1989, 83 (04) :1390-1399

[4] HUMAN ALPHA-GALACTOSIDASE-A - NUCLEOTIDE-SEQUENCE OF A CDNA CLONE ENCODING THE MATURE ENZYME [J].

BISHOP, DF ;

CALHOUN, DH ;

BERNSTEIN, HS ;

HANTZOPOULOS, P ;

QUINN, M ;

DESNICK, RJ .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1986, 83 (13) :4859-4863

[5]

BRADFORD MM, 1976, ANAL BIOCHEM, V72, P248, DOI 10.1016/0003-2697(76)90527-3

[6]

DESNICK RJ, 1989, METABOLIC BASIS INHE, P1751

[7] THE STRUCTURE AND EVOLUTION OF THE HUMAN BETA-GLOBIN GENE FAMILY [J].

EFSTRATIADIS, A ;

POSAKONY, JW ;

MANIATIS, T ;

LAWN, RM ;

OCONNELL, C ;

SPRITZ, RA ;

DERIEL, JK ;

FORGET, BG ;

WEISSMAN, SM ;

SLIGHTOM, JL ;

BLECHL, AE ;

SMITHIES, O ;

BARALLE, FE ;

SHOULDERS, CC ;

PROUDFOOT, NJ .

CELL, 1980, 21 (03) :653-668

[8] GENETIC STUDIES OF THE LAC REPRESSOR .7. MOLECULAR NATURE OF SPONTANEOUS HOTSPOTS IN THE LACI GENE OF ESCHERICHIA-COLI [J].

FARABAUGH, PJ ;

SCHMEISSNER, U ;

HOFER, M ;

MILLER, JH .

JOURNAL OF MOLECULAR BIOLOGY, 1978, 126 (04) :847-863

[9] PARTIAL DELETION OF HUMAN ALPHA-GALACTOSIDASE A GENE IN FABRY DISEASE - DIRECT REPEAT SEQUENCES AS A POSSIBLE CAUSE OF SLIPPED MISPAIRING [J].

FUKUHARA, Y ;

SAKURABA, H ;

OSHIMA, A ;

SHIMMOTO, M ;

NAGAO, Y ;

NADAOKA, Y ;

SUZUKI, T ;

SUZUKI, Y .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1990, 170 (01) :296-300

[10] MOLECULAR-BASIS OF ARGININEMIA - IDENTIFICATION OF 2 DISCRETE FRAME-SHIFT DELETIONS IN THE LIVER-TYPE ARGINASE GENE [J].

HARAGUCHI, Y ;

APARICIO, JM ;

TAKIGUCHI, M ;

AKABOSHI, I ;

YOSHINO, M ;

MORI, M ;

MATSUDDA, I .

JOURNAL OF CLINICAL INVESTIGATION, 1990, 86 (01) :347-350