DETECTION OF A NEW SUBMICROSCOPIC NORRIE DISEASE DELETION INTERVAL WITH A NOVEL DNA PROBE ISOLATED BY DIFFERENTIAL ALU-PCR FINGERPRINT CLONING

被引：16

作者：

BERGEN, AAB

WAPENAAR, MC

SCHUURMAN, EJM

DIERGAARDE, PJ

LERACH, H

MONACO, AP

BAKKER, E

BLEEKERWAGEMAKERS, EM

VANOMMEN, GJB

机构：

[1] LEIDEN UNIV,DEPT HUMAN GENET,2300 RA LEIDEN,NETHERLANDS

[2] BAYLOR COLL MED,HOUSTON,TX 77030

[3] IMPERIAL CANC RES FUND,GENOME ANAL LAB,LONDON WC2A 3PX,ENGLAND

[4] JOHN RADCLIFFE HOSP,INST MOLEC MED,IMPERIAL CANC RES FUND LABS,OXFORD OX3 9DU,ENGLAND

来源：

CYTOGENETICS AND CELL GENETICS | 1993年 / 62卷 / 04期

关键词：

D O I：

10.1159/000133484

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Differential Alu PCR fingerprint cloning was used to isolate a DNA probe from the Xp11.4-->p11.21 region of the human X chromosome. This novel sequence, cpXr318 (DXS742), detects a new submicroscopic deletion interval at the Norrie disease locus (NDP). Combining our data with the consensus genetic map of the proximal short arm of the X chromosome, we propose the physical order Xcen - DXS14 -DXS255 - (DXS426, TIMP) - (DXS742 - ([MAOB - MAOA -DXS7], NDP) - DXS77 - DXS228) - DXS209 - DXS148 -DXS196 - Xpter. The cpXr318 probe and a subclone from a cosmid corresponding to the DXS7 locus were converted into sequence-tagged sites. Finally, DXS742, DXS7, DXS77, and MAOA were integrated into a physical map spanning the Norrie disease locus.

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页码：231 / 235

页数：5

相关论文

共 31 条

[1] USE OF ALU-PCR TO CHARACTERIZE HYBRIDS CONTAINING MULTIPLE FRAGMENTS AND TO GENERATE NEW XP21.3-P22.2 MARKERS [J].

BENHAM, F ;

ROWE, P .

GENOMICS, 1992, 12 (02) :368-376

[2] MULTIPOINT LINKAGE ANALYSIS IN X-LINKED OCULAR ALBINISM OF THE NETTLESHIP-FALLS TYPE [J].

BERGEN, AAB ;

SAMANNS, C ;

SCHUURMAN, EJM ;

VANOSCH, L ;

VANDORP, DB ;

PINCKERS, AJLG ;

BAKKER, E ;

GAL, A ;

VANOMMEN, GJB ;

BLEEKERWAGEMAKERS, EM .

HUMAN GENETICS, 1991, 88 (02) :162-166

[3] ISOLATION OF A CANDIDATE GENE FOR NORRIE DISEASE BY POSITIONAL CLONING [J].

BERGER, W ;

MEINDL, A ;

VANDEPOL, TJR ;

CREMERS, FPM ;

ROPERS, HH ;

DOERNER, C ;

MONACO, A ;

BERGEN, AAB ;

LEBO, R ;

WARBURG, M ;

ZERGOLLERN, L ;

LORENZ, B ;

GAL, A ;

BLEEKERWAGEMAKERS, EM ;

MEITINGER, T .

NATURE GENETICS, 1992, 1 (03) :199-203

[4] CLOSE GENETIC-LINKAGE BETWEEN X-LINKED RETINITIS PIGMENTOSA AND A RESTRICTION FRAGMENT LENGTH POLYMORPHISM IDENTIFIED BY RECOMBINANT DNA PROBE L1.28 [J].

BHATTACHARYA, SS ;

WRIGHT, AF ;

CLAYTON, JF ;

PRICE, WH ;

PHILLIPS, CI ;

MCKEOWN, CME ;

JAY, M ;

BIRD, AC ;

PEARSON, PL ;

SOUTHERN, EM ;

EVANS, HJ .

NATURE, 1984, 309 (5965) :253-255

[5] NORRIE DISEASE AS PART OF A COMPLEX SYNDROME EXPLAINED BY A SUBMICROSCOPIC DELETION OF THE X-CHROMOSOME [J].

BLEEKERWAGEMAKERS, EM ;

ZWEIJEHOFMAN, I ;

GAL, A .

OPHTHALMIC PAEDIATRICS AND GENETICS, 1988, 9 (03) :137-142

[6] ISOLATION AND CHARACTERIZATION OF A CANDIDATE GENE FOR NORRIE DISEASE [J].

CHEN, ZY ;

HENDRIKS, RW ;

JOBLING, MA ;

POWELL, JF ;

BREAKEFIELD, XO ;

SIMS, KB ;

CRAIG, IW .

NATURE GENETICS, 1992, 1 (03) :204-208

[7] GENERATION OF NOVEL SEQUENCE TAGGED SITES (STSS) FROM DISCRETE CHROMOSOMAL REGIONS USING ALU-PCR [J].

COLE, CG ;

GOODFELLOW, PN ;

BOBROW, M ;

BENTLEY, DR .

GENOMICS, 1991, 10 (03) :816-826

[8] RAPID ISOLATION OF HUMAN CHROMOSOME-SPECIFIC DNA PROBES FROM A SOMATIC-CELL HYBRID [J].

COTTER, FE ;

HAMPTON, GM ;

NASIPURI, S ;

BODMER, WF ;

YOUNG, BD .

GENOMICS, 1990, 7 (02) :257-263

[9] REPORT OF THE COMMITTEE-ON-THE-GENETIC-CONSTITUTION-OF-THE-X-CHROMOSOME [J].

DAVIES, KE ;

MANDEL, JL ;

MONACO, AP ;

NUSSBAUM, RL ;

WILLARD, HF .

CYTOGENETICS AND CELL GENETICS, 1991, 58 (1-2) :853-966

[10]

DELACHAPELLE A, 1985, CLIN GENET, V28, P317

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