PHYSICAL MAP OF HUMAN XQ27-QTER - LOCALIZING THE REGION OF THE FRAGILE-X MUTATION

被引：87

作者：

POUSTKA, A

DIETRICH, A

LANGENSTEIN, G

TONIOLO, D

WARREN, ST

LEHRACH, H

机构：

[1] IST GENET BIOCHIM & EVOLUZ,I-27100 PAVIA,ITALY

[2] EMORY UNIV,SCH MED,DEPT BIOCHEM,DIV MED GENET,ATLANTA,GA 30322

[3] EMORY UNIV,SCH MED,DEPT PEDIAT,DIV MED GENET,ATLANTA,GA 30322

[4] IMPERIAL CANC RES FUND,LONDON WC2A 3PX,ENGLAND

来源：

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 1991年 / 88卷 / 19期

关键词：

XQ28; PULSED-FIELD GEL MAP; TELOMERE; X-CHROMOSOME;

D O I：

10.1073/pnas.88.19.8302

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

We describe a physical map of the end of the long arm of the human X chromosome encompassing the region from Xq27.2 to the q telomere, inclusive of the chromosomal band Xq28. This region is of particular interest, since it contains the highest density of genes associated with genetic diseases. The map covers a total of 12 megabases (Mb) of DNA and extends from the telomere to 3 Mb beyond the most likely position of the fragile X mutation, defined by a cluster of translocation breakpoints in somatic cell hybrids. The map determines order and position of loci throughout the Xq28 region and localizes cell line breakpoints marking the fragile X region to an interval of 300-700 kilobases between 8 and 8.7 Mb proximal of the Xq telomere.

引用

页码：8302 / 8306

页数：5

共 37 条

[1] TOWARD A PHYSICAL MAP OF THE XQ28 REGION IN MAN - LINKING COLOR-VISION, G6PD, AND COAGULATION FACTOR-VIII GENES TO AN X-Y HOMOLOGY REGION [J].

ARVEILER, B ;

VINCENT, A ;

MANDEL, JL .

GENOMICS, 1989, 4 (04) :460-471

[2]

BELL MV, 1989, AM J HUM GENET, V45, P883

[3] STRUCTURE AND POLYMORPHISM OF HUMAN TELOMERE-ASSOCIATED DNA [J].

BROWN, WRA ;

MACKINNON, PJ ;

VILLASANTE, A ;

SPURR, N ;

BUCKLE, VJ ;

DOBSON, MJ .

CELL, 1990, 63 (01) :119-132

[4] MULTILOCUS ANALYSIS OF THE FRAGILE-X SYNDROME [J].

BROWN, WT ;

GROSS, A ;

CHAN, C ;

JENKINS, EC ;

MANDEL, JL ;

OBERLE, I ;

ARVEILER, B ;

NOVELLI, G ;

THIBODEAU, S ;

HAGERMAN, R ;

SUMMERS, K ;

TURNER, G ;

WHITE, BN ;

MULLIGAN, L ;

FORSTERGIBSON, C ;

HOLDEN, JJA ;

ZOLL, B ;

KRAWCZAK, M ;

GOONEWARDENA, P ;

GUSTAVSON, KH ;

PETTERSSON, U ;

HOLMGREN, G ;

SCHWARTZ, C ;

HOWARDPEEBLES, PN ;

MURPHY, P ;

BREG, WR ;

VEENEMA, H ;

CARPENTER, NJ .

HUMAN GENETICS, 1988, 78 (03) :201-205

[5]

BROWN WT, 1990, AM J HUM GENET, V47, P175

[6] CHROMOSOMAL LOCALIZATION OF GABAA RECEPTOR SUBUNIT GENES - RELATIONSHIP TO HUMAN GENETIC-DISEASE [J].

BUCKLE, VJ ;

FUJITA, N ;

RYDERCOOK, AS ;

DERRY, JMJ ;

BARNARD, PJ ;

LEBO, RV ;

SCHOFIELD, PR ;

SEEBURG, PH ;

BATESON, AN ;

DARLISON, MG ;

BARNARD, EA .

NEURON, 1989, 3 (05) :647-654

[7]

DAHL N, 1989, AM J HUM GENET, V45, P304

[8] GENETIC-MAPPING OF THE HUMAN X-CHROMOSOME BY USING RESTRICTION FRAGMENT LENGTH POLYMORPHISMS [J].

DRAYNA, D ;

DAVIES, K ;

HARTLEY, D ;

MANDEL, JL ;

CAMERINO, G ;

WILLIAMSON, R ;

WHITE, R .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1984, 81 (09) :2836-2839

[9] DEFINING THE BEGINNING AND END OF KPNI FAMILY SEGMENTS [J].

GRIMALDI, G ;

SKOWRONSKI, J ;

SINGER, MF .

EMBO JOURNAL, 1984, 3 (08) :1753-1759

[10] A LARGE INVERTED DUPLICATION ALLOWS HOMOLOGOUS RECOMBINATION BETWEEN CHROMOSOMES HETEROZYGOUS FOR THE PROXIMAL T-COMPLEX INVERSION [J].

HERRMANN, BG ;

BARLOW, DP ;

LEHRACH, H .

CELL, 1987, 48 (05) :813-825

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