242 BREAKPOINTS IN THE 200-KB DELETION-PRONE P20-REGION OF THE DMD GENE ARE WIDELY SPREAD

被引：51

作者：

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

机构：

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

[2] PRINCE PHILIP RES LABS, PAEDIAT RES UNIT, LONDON, ENGLAND

[3] JOHNS HOPKINS UNIV HOSP, DEPT PEDIAT, BALTIMORE, MD 21205 USA

[4] UNIV INSTELLING ANTWERP, DEPT BIOCHEM, B-2610 WILRIJK, BELGIUM

[5] BAYLOR UNIV, INST MOLEC GENET, HOUSTON, TX 77030 USA

[6] PRINCE HENRY HOSP, DEPT CLIN CHEM, LITTLE BAY, NSW 2036, AUSTRALIA

[7] PRINCE WALES HOSP, DEPT CLIN CHEM, RANDWICK, NSW 2031, AUSTRALIA

[8] IST BIOL CELLULARE, ROME, ITALY

[9] UNIV PENN, MED CTR, DEPT NEUROL, PHILADELPHIA, PA 19104 USA

[10] STANFORD UNIV, MED CTR, HOWARD HUGHES MED INST, STANFORD, CA 94305 USA

[11] STANFORD UNIV, MED CTR, DEPT GENET, STANFORD, CA 94305 USA

[12] NEW ENGLAND MED CTR HOSP, DEPT PEDIAT, BOSTON, MA 02111 USA

[13] INSERM, U129, INST PATHOL MOLEC, F-75005 PARIS, FRANCE

[14] UNIV GREIFSWALD, INST MED GENET, O-2200 GREIFSWALD, GERMANY

[15] INSERM, U73, INST GENET & PATHOL FOETALE, F-75005 PARIS, FRANCE

[16] INSELSPITAL BERN, MED GENET ABT, CH-3010 BERN, SWITZERLAND

[17] UNIV HELSINKI, DEPT MED GENET, SF-00100 HELSINKI 10, FINLAND

[18] NAGASAKI UNIV, SCH MED, DEPT HUMAN GENET, NAGASAKI 852, JAPAN

[19] UNIV WURZBURG, INST HUMAN GENET, W-8700 WURZBURG, GERMANY

[20] CHU LIEGE, CHIM MED & TOXICOL LAB, LIEGE, BELGIUM

[21] UNIV LONDON, INST CHILD HLTH, LONDON, ENGLAND

[22] INST GIANNINA GASLINI, GENOA, ITALY

[23] STATE UNIV GRONINGEN, DEPT MED GENET, 9700 AB GRONINGEN, NETHERLANDS

[24] UNIV DUSSELDORF, MED EINRICHTUNGEN, W-4000 DUSSELDORF 1, GERMANY

[25] RIGSHOSP, AFSNIT KLIN GENET METAB LAB, DK-2100 COPENHAGEN, DENMARK

[26] CATHOLIC UNIV LOUVAIN, CTR GENET MED, B-1200 BRUSSELS, BELGIUM

[27] DUKE UNIV, MED CTR, DIV NEUROL, DURHAM, NC 27710 USA

[28] HOSP SICK CHILDREN, DEPT GENET, TORONTO M5G 1X8, ONTARIO, CANADA

来源：

GENOMICS | 1991年 / 10卷 / 03期

关键词：

D O I：

10.1016/0888-7543(91)90445-K

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

Using whole cosmids as probes, we have mapped 242 DMD BMD deletion breakpoints located in the major deletion hot spot of the DMD gene. Of these, 113 breakpoints were mapped more precisely to individual restriction enzyme fragments in the distal 80 kb of the 170-kb intron 44. An additional 12 breakpoints were mapped to the adjacent 10 kb of introm 45. The breakpoints are distributed over the entire region, with no significant local variation in frequency. Furthermore, deletion sizes vary and are not influenced by the positions of the breakpoints. This argues against a predominant role of one or a few specific sequences in causing frequent rearrangements. It suggests that structural characteristics or a more widespread recombinogenic sequence makes this region so susceptible to deletion. Our study revealed several RFLPs, one of which is a 300-bp insertion/deletion polymorphism. Abnormally migrating junction fragments are found in 81% of the precisely mapped deletions and are highly valuable in the diagnosis of carrier females. © 1991.

引用

页码：631 / 639

页数：9

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