GUIDELINES FOR THE PREPARATION AND ANALYSIS OF THE FRAGILE-X CHROMOSOME IN LYMPHOCYTES

被引：50

作者：

JACKY, PB

AHUJA, YR

ANYANEYEBOA, K

BREG, WR

CARPENTER, NJ

FROSTERISKENIUS, UG

FRYNS, JP

GLOVER, TW

GUSTAVSON, KH

HOEGERMAN, SF

HOLMGREN, G

HOWARDPEEBLES, PN

JENKINS, EC

KRAWCZUN, MS

NERI, G

PETTIGREW, A

SCHAAP, T

SCHONBERG, SA

SHAPIRO, LR

SPINNER, N

STEINBACH, P

VIANNAMORGANTE, AM

WATSON, MS

WILMOT, PL

机构：

[1] KAISER PERMANENTE, DEPT PATHOL CYTOGENET, PORTLAND, OR USA

[2] OSMANIA UNIV, DEPT GENET, HYDERABAD 500007, ANDHRA PRADESH, INDIA

[3] YALE UNIV, SCH MED, DEPT HUMAN GENET, NEW HAVEN, CT 06510 USA

[4] CHILDRENS MED CTR, CHAPMAN INST MED GENET, TULSA, OK USA

[5] MED UNIV LUBECK, FRAUENHEILKUNDE & GEBURTSHILFE KLIN, LUBECK, GERMANY

[6] UNIV ULM, KLIN GENET ABT, W-7900 ULM, GERMANY

[7] CATHOLIC UNIV LEUVEN, CTR HUMAN GENET, B-3000 LOUVAIN, BELGIUM

[8] UNIV MICHIGAN, DEPT PEDIAT GENET, ANN ARBOR, MI 48109 USA

[9] UNIV HOSP UPPSALA, DEPT CLIN GENET, UPPSALA, SWEDEN

[10] UMEA UNIV HOSP, DEPT CLIN GENET, S-90185 UMEA, SWEDEN

[11] COLL WILLIAM & MARY, DEPT BIOL, WILLIAMSBURG, VA 23185 USA

[12] GENET & IVF INST, FAIRFAX, VA USA

[13] COLUMBIA UNIV COLL PHYS & SURG, NEW YORK, NY 10032 USA

[14] NEW YORK STATE INST BASIC RES DEV DISABILITIES, DEPT GENET, STATEN ISL, NY 10314 USA

[15] NEW YORK MED COLL, DEPT PEDIAT, VALHALLA, NY 10595 USA

[16] NEW YORK MED COLL, DEPT PATHOL, VALHALLA, NY 10595 USA

[17] WESTCHESTER CTY MED CTR, VALHALLA, NY 10595 USA

[18] UNIV CATTOLICA SACRO CUORE, IST GENET UMANA, I-00168 ROME, ITALY

[19] UNIV KENTUCKY, ALBERT B CHANDLER MED CTR, DEPT PATHOL, LEXINGTON, KY 40536 USA

[20] HADASSAH UNIV HOSP, DEPT HUMAN GENET, JERUSALEM, ISRAEL

[21] UNIV CALIF SAN FRANCISCO, DEPT PEDIAT, SAN FRANCISCO, CA 94143 USA

[22] ALBERT EINSTEIN MED CTR, NO DIV, DEPT PEDIAT, PHILADELPHIA, PA 19141 USA

[23] UNIV SAO PAULO, DEPT BIOL, SAO PAULO, BRAZIL

[24] WASHINGTON UNIV, SCH MED, DEPT PEDIAT, ST LOUIS, MO 63110 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 38卷 / 2-3期

关键词：

FRAGILE-X; GUIDELINES; LABORATORY STANDARDS; PREPARATION METHODS; RESULTS REPORTING;

D O I：

10.1002/ajmg.1320380249

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The following guidelines were adopted by an Ad Hoc Committee convened at the Fourth International Workshop on the Fragile X Syndrome and X-Linked Mental Retardation to establish minimum cytogenetic standards for the preparation and analysis of the fragile X chromosome. The intention of the committee was to develop and provide practical standards for the routine cytogenetic detection of the fragile X. The guidelines describe reasonable criteria for effective tissue culture methods for eliciting the Xq27.3 fragile site in vitro and for the analysis of such chromosome preparations.

引用

页码：400 / 403

页数：4

共 23 条

[1]

CALVAMERCADO MP, 1983, ANN GENET-PARIS, V26, P147

[2] CONSTITUTIVE FRAGILE SITES 1P31, 3P14, 6Q26, AND 16Q23 AND THEIR USE AS CONTROLS FOR FALSE-NEGATIVE RESULTS WITH THE FRAGILE(X) [J].

DANIEL, A ;

EKBLOM, L ;

PHILLIPS, S .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1984, 18 (03) :483-491

[3] FOLATE METABOLISM IN HUMANS [J].

ERBE, RW ;

WANG, JCC .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1984, 17 (01) :277-287

[4]

FROSTERISKENIUS U, 1987, NEW ENGL J MED, V316, P1093

[5]

GLOVER TW, 1981, AM J HUM GENET, V33, P234

[6] DNA POLYMERASE-ALPHA INHIBITION BY APHIDICOLIN INDUCES GAPS AND BREAKS AT COMMON FRAGILE SITES IN HUMAN-CHROMOSOMES [J].

GLOVER, TW ;

BERGER, C ;

COYLE, J ;

ECHO, B .

HUMAN GENETICS, 1984, 67 (02) :136-142

[7] RARE, POLYMORPHIC, AND COMMON FRAGILE SITES - A CLASSIFICATION [J].

HECHT, F .

HUMAN GENETICS, 1986, 74 (02) :207-208

[8]

HOWARDPEEBLES PN, 1981, CLIN GENET, V19, P228

[9]

JACKY PB, 1983, AM J HUM GENET, V35, P1276

[10] X-LINKED MENTAL-RETARDATION - A STUDY OF 7 FAMILIES [J].

JACOBS, PA ;

GLOVER, TW ;

MAYER, M ;

FOX, P ;

GERRARD, JW ;

DUNN, HG ;

HERBST, DS .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1980, 7 (04) :471-489

← 1 2 3 →