A POLYMORPHIC STS IN INTRON-44 OF THE DYSTROPHIN GENE

被引：10

作者：

BLONDEN, LAJ ^{[1
]}

TERWINDT, GM ^{[1
]}

DENDUNNEN, JT ^{[1
]}

VANOMMEN, GJB ^{[1
]}

机构：

[1] LEIDEN UNIV,SYLVIUS LAB,DEPT HUMAN GENET,WASSENAARSEWEG 72,2333 AL LEIDEN,NETHERLANDS

来源：

HUMAN GENETICS | 1994年 / 93卷 / 04期

关键词：

D O I：

10.1007/BF00201683

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A 300-bp EcoRV polymorphism, detected with P20 (DXS269) in intron 44 of the human dystrophin gene, is due to an insertion or deletion. To make this restriction fragment length polymorphism (RFLP) available for polymerase chain reaction (PCR) analysis, we sequenced both alleles of this polymorphism and synthesized primers flanking the mutation site. The origin of the mutation is a single Alu repeat insertion. The 300-bp polymorphism can now be successfully detected by PCR and provides an excellent tool to detect female carriers in this deletion prone region of the dystrophin gene.

引用

页码：479 / 480

页数：2

共 10 条

[1] 242 BREAKPOINTS IN THE 200-KB DELETION-PRONE P20-REGION OF THE DMD GENE ARE WIDELY SPREAD
BLONDEN, LAJ
GROOTSCHOLTEN, PM
DENDUNNEN, JT
BAKKER, E
ABBS, S
BOBROW, M
BOEHM, C
VAN BROECKHOVEN, C
BAUMBACH, L
CHAMBERLAIN, J
CASKEY, CT
DENTON, M
FELICETTI, L
GALLUZI, G
FISCHBECK, KH
FRANCKE, U
DARRAS, B
GILGENKRANTZ, H
KAPLAN, JC
HERRMANN, FH
JUNIEN, C
BOILEAU, C
LIECHTIGALLATI, S
LINDLOF, M
MATSUMOTO, T
NIIKAWA, N
MULLER, CR
PONCIN, J
MALCOLM, S
ROBERTSON, E
ROMEO, G
COVONE, AE
SCHEFFER, H
SCHRODER, E
SCHWARTZ, M
VERELLEN, C
WALKER, A
WORTON, R
GILLARD, E
VANOMMEN, GJB
[J]. GENOMICS, 1991, 10 (03) : 631 - 639
[2] DUNNEN J, 1989, AM J HUM GENET, V45, P835
[3] A FUNDAMENTAL DIVISION IN THE ALU FAMILY OF REPEATED SEQUENCES
JURKA, J
SMITH, T
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1988, 85 (13) : 4775 - 4778
[4] PROTOTYPIC SEQUENCES FOR HUMAN REPETITIVE DNA
JURKA, J
WALICHIEWICZ, J
MILOSAVLJEVIC, A
[J]. JOURNAL OF MOLECULAR EVOLUTION, 1992, 35 (04) : 286 - 291
[5] KOENIG M, 1989, AM J HUM GENET, V45, P498
[6] CHARACTERIZATION AND POLYMERASE CHAIN-REACTION (PCR) DETECTION OF AN ALU DELETION POLYMORPHISM IN TOTAL LINKAGE DISEQUILIBRIUM WITH MYOTONIC-DYSTROPHY
MAHADEVAN, MS
FOITZIK, MA
SURH, LC
KORNELUK, RG
[J]. GENOMICS, 1993, 15 (02) : 446 - 448
[7] CLONING OF THE BREAKPOINT OF AN X-21 TRANSLOCATION ASSOCIATED WITH DUCHENNE MUSCULAR-DYSTROPHY
RAY, PN
BELFALL, B
DUFF, C
LOGAN, C
KEAN, V
THOMPSON, MW
SYLVESTER, JE
GORSKI, JL
SCHMICKEL, RD
WORTON, RG
[J]. NATURE, 1985, 318 (6047) : 672 - 675
[8] Vidaud Dominique, 1993, European Journal of Human Genetics, V1, P30
[9] WALLACE MR, 1991, NATURE, V353, P864, DOI 10.1038/353864a0
[10] WAPENAAR M C, 1988, Genomics, V2, P101, DOI 10.1016/0888-7543(88)90090-0

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