Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation

被引：21

作者：

Giraudeau, F

Taine, L

Biancalana, V

Delobel, B

Journel, H

Missirian, C

Lacombe, D

Bonneau, D

Parent, P

Aubert, D

Hauck, Y

Croquette, MF

Toutain, A

Mattei, MG

Loiseau, HA

David, A

Vergnaud, G ^{[1
]}

机构：

[1] Univ Paris 11, Inst Genet & Microbiol, IECH, F-91405 Orsay, France

[2] CHU Pellegrin, Serv Genet, F-33076 Bordeaux, France

[3] Fac Med Strasbourg, Inst Chim Biol, CNRS,LGME, INSERM,U184, F-67085 Strasbourg, France

[4] Hop St Antoine, Lab Cytogenet, F-59019 Lille, France

[5] Ctr Hosp Chubert Vannes, F-56017 Vannes, France

[6] Fac Med Marseille, INSERM, U419, F-13385 Marseille, France

[7] Hop Jean Bernard, F-86021 Poitiers, France

[8] Ctr Hosp Reg A Morvan, Consultat Genet Pediat, F-29285 Brest, France

[9] Hop Nantes, Inst Biol, F-44035 Nantes, France

[10] Hop Bretonneau, Serv Genet, F-37044 Tours, France

[11] CHU Nantes, Hop Mere Enfant, Unite Genet Clin, F-44093 Nantes, France

[12] Ctr Etud Bouchet 12, F-91740 Vert Le Petit, France

来源：

JOURNAL OF MEDICAL GENETICS | 2001年 / 38卷 / 02期

关键词：

D O I：

10.1136/jmg.38.2.121

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：121 / 125

页数：5

共 22 条

[1] Analysis of distribution in the human, pig, and rat genomes points toward a general subtelomeric origin of minisatellite structures [J].

Amarger, V ;

Gauguier, D ;

Yerle, M ;

Apiou, F ;

Pinton, P ;

Giraudeau, F ;

Monfouilloux, S ;

Lathrop, M ;

Dutrillaux, B ;

Buard, J ;

Vergnaud, G .

GENOMICS, 1998, 52 (01) :62-71

[2] CROSSFIND: Software for detecting and displaying well-characterised meiotic breakpoints in human family data [J].

Attwood, J ;

Povey, S .

ANNALS OF HUMAN GENETICS, 1996, 60 :487-498

[3]

Chen Z, 1997, AM J MED GENET, V71, P160, DOI 10.1002/(SICI)1096-8628(19970808)71:2<160::AID-AJMG8>3.0.CO

[4]

2-1

[5] European gene mapping project (EUROGEM): Breakpoint panels for human chromosomes based on the CEPH reference families [J].

Cox, SA ;

Attwood, J ;

Bryant, SP ;

Bains, R ;

Povey, R ;

Povey, S ;

Rebello, M ;

Kapsetaki, M ;

Moschonas, NK ;

Grzeschik, KH ;

Otto, M ;

Dixon, M ;

Sudworth, HE ;

Kooy, RF ;

Wright, A ;

Teague, P ;

Terrenato, L ;

Vergnaud, G ;

Monfouilloux, S ;

Weissenbach, J ;

Alibert, O ;

Dib, C ;

Faure, S ;

Bakker, E ;

Pearson, NM ;

Vossen, RHAM ;

Gal, A ;

MuellerMyhsok, B ;

Cann, HM ;

Spurr, NK .

ANNALS OF HUMAN GENETICS, 1996, 60 :447-486

[6]

DESANGLES F, 1983, ANN GENET-PARIS, V26, P53

[7] A comprehensive genetic map of the human genome based on 5,264 microsatellites [J].

Dib, C ;

Faure, S ;

Fizames, C ;

Samson, D ;

Drouot, N ;

Vignal, A ;

Millasseau, P ;

Marc, S ;

Hazan, J ;

Seboun, E ;

Lathrop, M ;

Gyapay, G ;

Morissette, J ;

Weissenbach, J .

NATURE, 1996, 380 (6570) :152-154

[8] A TECHNIQUE FOR RADIOLABELING DNA RESTRICTION ENDONUCLEASE FRAGMENTS TO HIGH SPECIFIC ACTIVITY [J].

FEINBERG, AP ;

VOGELSTEIN, B .

ANALYTICAL BIOCHEMISTRY, 1983, 132 (01) :6-13

[9] Molecular-cytogenetic detection of a deletion of 1p36.3 [J].

Giraudeau, F ;

Aubert, D ;

Young, I ;

Horsley, S ;

Knight, S ;

Kearney, L ;

Vergnaud, G ;

Flint, J .

JOURNAL OF MEDICAL GENETICS, 1997, 34 (04) :314-317

[10]

Giraudeau F, 1999, GENOME RES, V9, P647

← 1 2 3 →