GUIDELINES FOR THE DIAGNOSIS OF FRAGILE-X SYNDROME

被引：73

作者：

OOSTRA, BA

JACKY, PB

BROWN, WT

ROUSSEAU, F

机构：

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

[2] NEW YORK STATE INST BASIC RES,DEPT HUMAN GENET,STATEN ISL,NY

[3] HOP ST FRANCOIS ASSISE,QUEBEC CITY,PQ,CANADA

来源：

JOURNAL OF MEDICAL GENETICS | 1993年 / 30卷 / 05期

关键词：

D O I：

10.1136/jmg.30.5.410

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Direct DNA analysis of the fragile X mutation has become available with the isolation of DNA probes that detect the unstable DNA sequence containing the CGG repeat. We present the various alternatives of combinations of probes and enzymes that can be used for the diagnosis of fragile X syndrome. An overview is given of all the different available probes. A different protocol is presented for postnatal and prenatal diagnosis of fragile X syndrome. This includes Southern blot analysis as well as direct analysis of the CGG repeat by PCR amplification. We discuss the role of constitutional cytogenetic analysis in the diagnosis of mentally retarded subjects and cytogenetic analysis for the diagnosis of fragile X syndrome.

引用

页码：410 / 413

页数：4

共 25 条

[1] PHYSICAL MAPPING ACROSS THE FRAGILE-X - HYPERMETHYLATION AND CLINICAL EXPRESSION OF THE FRAGILE-X SYNDROME [J].

BELL, MV ;

HIRST, MC ;

NAKAHORI, Y ;

MACKINNON, RN ;

ROCHE, A ;

FLINT, TJ ;

JACOBS, PA ;

TOMMERUP, N ;

TRANEBJAERG, L ;

FROSTERISKENIUS, U ;

KERR, B ;

TURNER, G ;

LINDENBAUM, RH ;

WINTER, R ;

PEMBREY, M ;

THIBODEAU, S ;

DAVIES, KE .

CELL, 1991, 64 (04) :861-866

[2]

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

[3] ANALYSIS OF FULL FRAGILE-X MUTATIONS IN FETAL TISSUES AND MONOZYGOTIC TWINS INDICATE THAT ABNORMAL METHYLATION AND SOMATIC HETEROGENEITY ARE ESTABLISHED EARLY IN DEVELOPMENT [J].

DEVYS, D ;

BIANCALANA, V ;

ROUSSEAU, F ;

BOUE, J ;

MANDEL, JL ;

OBERLE, I .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 43 (1-2) :208-216

[4]

DOBKIN CS, 1991, LANCET, V338, P957

[5]

ERSTER SH, 1992, HUM GENET, V90, P55

[6] VARIATION OF THE CGG REPEAT AT THE FRAGILE-X SITE RESULTS IN GENETIC INSTABILITY - RESOLUTION OF THE SHERMAN PARADOX [J].

FU, YH ;

KUHL, DPA ;

PIZZUTI, A ;

PIERETTI, M ;

SUTCLIFFE, JS ;

RICHARDS, S ;

VERKERK, AJMH ;

HOLDEN, JJA ;

FENWICK, RG ;

WARREN, ST ;

OOSTRA, BA ;

NELSON, DL ;

CASKEY, CT .

CELL, 1991, 67 (06) :1047-1058

[7] FRAGILE-X SYNDROME WITHOUT CCG AMPLIFICATION HAS AN FMR1 DELETION [J].

GEDEON, AK ;

BAKER, E ;

ROBINSON, H ;

PARTINGTON, MW ;

GROSS, B ;

MANCA, A ;

KORN, B ;

POUSTKA, A ;

YU, S ;

SUTHERLAND, GR ;

MULLEY, JC .

NATURE GENETICS, 1992, 1 (05) :341-344

[8]

HIRST M, 1991, LANCET, V338, P956, DOI 10.1016/0140-6736(91)91831-E

[9] GUIDELINES FOR THE PREPARATION AND ANALYSIS OF THE FRAGILE-X CHROMOSOME IN LYMPHOCYTES [J].

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 .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 38 (2-3) :400-403

[10]

JACKY PB, IN PRESS AM J MED GE

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