THE GENE FOR THE FAMILIAL FORM OF INCONTINENTIA PIGMENTI (IP2) MAPS TO THE DISTAL PART OF XQ28

被引：52

作者：

SMAHI, A

HYDENGRANSKOG, C

PETERLIN, B

VABRES, P

HEUERTZ, S

FULCHIGNONILATAUD, MC

DAHL, N

LABRUNE, P

LEMAREC, B

PIUSSAN, C

TAIEB, A

VONKOSKULL, H

HORSCAYLA, MC

机构：

[1] HOP NECKER ENFANTS MALAD,INSERM,U12,UNITE RECH HANDICAPS GENETIQUESDE ENFANT,F-75743 PARIS 15,FRANCE

[2] HELSINKI UNIV,CENT HOSP,DEPT OBSTET,PRENATAL GENET LAB,SF-00290 HELSINKI,FINLAND

[3] UNIV HELSINKI,CENT HOSP,DEPT GYNECOL,SF-00290 HELSINKI,FINLAND

[4] BIOMED CTR,DEPT MED GENET,UPPSALA,SWEDEN

[5] CTR HOSP REG & UNIV RENNES,SERV PEDIAT GENET MED,F-35033 RENNES,FRANCE

[6] CTR HOSP REG & UNIV AMIENS,HOP NORD,F-80054 AMIENS,FRANCE

[7] HOP PELLEGRIN ENFANTS,UNITE DERMATOL PEDIAT,F-33076 BORDEAUX,FRANCE

[8] UGK,DEPT MED GENET,LJUBLJANA 61000,SLOVENIA

来源：

HUMAN MOLECULAR GENETICS | 1994年 / 3卷 / 02期

关键词：

D O I：

10.1093/hmg/3.2.273

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Linkage data for familial incontinentia pigmenti (IP2) and 17 X chromosomal markers are reported. The linkage previously found between IP2 and the F8C locus is confirmed (Z max = 11.85 at theta = 0.028). Linkage is established with distal markers DXS1108 (Z max = 10.06 at B = 0.00) and DXYS154 (Z = 9.07 at theta = 0.019). Multipoint analysis supports the distal localization of the IP2 gene with respect to the F8C locus.

引用

页码：273 / 278

页数：6

共 48 条

[1] Transcriptional analysis of the candidate region for incontinentia pigmenti (IP2) in Xq28
Rogner, UC
Heiss, NS
Kioschis, P
Wiemann, S
Korn, B
Poustka, A
GENOME RESEARCH, 1996, 6 (10): : 922 - 934
[2] THE GENE FOR INCONTINENTIA PIGMENTI IS ASSIGNED TO XQ28
SEFIANI, A
ABEL, L
HEUERTZ, S
SINNETT, D
LAVERGNE, L
LABUDA, D
HORSCAYLA, MC
GENOMICS, 1989, 4 (03) : 427 - 429
[3] LINKAGE STUDIES IN INCONTINENTIA PIGMENTI (IP2) USING POLYMORPHIC DNA PROBES FROM THE XQ28 REGION
SEFIANI, A
HOLVOETVERMAUT, L
MRAD, R
KAPLAN, J
OBERLE, I
VINCENT, A
HEUERTZ, S
LABUDA, D
BOYER, J
DAVID, A
EYDOUX, P
GILGENKRANTZ, S
LEMAREC, B
MALEVILLE, J
MORAINE, C
STALDER, JF
FREZAL, J
HORSCAYLA, MC
CYTOGENETICS AND CELL GENETICS, 1989, 51 (1-4): : 1076 - 1076
[4] Physical characterization of distal Xq28 and the syntenic mouse region: candidate gene analysis for Incontinentia Pigmenti Type 2.
Aradhya, S
Nelson, DL
AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A220 - A220
[5] 3 FINNISH INCONTINENTIA PIGMENTI (IP) FAMILIES WITH RECOMBINATIONS WITH THE IP LOCI AT XQ28 AND XP11
HYDENGRANSKOG, C
SALONEN, R
VONKOSKULL, H
HUMAN GENETICS, 1993, 91 (02) : 185 - 189
[6] INCONTINENTIA PIGMENTI TYPE-2 - CONFIRMATION OF LINKAGE TO XQ28 AND DEMONSTRATION OF A NEW MUTATION
SCHEUERLE, AE
LEWIS, RA
LEVY, ML
NELSON, DL
AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (03) : 1756 - 1756
[7] Skewed X-inactivation in incontinentia pigmenti (IP2).
Smahi, A
Heuertz, S
Bonnefont, JP
Delanay, A
Vabres, P
Munnich, A
AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A371 - A371
[8] THE GENE FOR X-LINKED HYDROCEPHALUS MAPS TO XQ28, DISTAL TO DXS52
LYONNET, S
PELET, A
ROYER, G
DELRIEU, O
SERVILLE, F
LEMAREC, B
GRUENSTEUDEL, A
PFEIFFER, RA
BRIARD, ML
DUBAY, C
HORSCAYLA, MC
LEMERRER, M
MUNNICH, A
GENOMICS, 1992, 14 (02) : 508 - 510
[9] Microdeletion/Duplication at the Xq28 IP Locus Causes a De Novo IKBKG/NEMO/IKKgamma exon4_10 Deletion in Families with Incontinentia Pigmenti
Fusco, Francesca
Paciolla, Mariateresa
Pescatore, Alessandra
Lioi, Maria Brigida
Ayuso, Carmen
Faravelli, Francesca
Gentile, Mattia
Zollino, Marcella
D'Urso, Michele
Miano, Maria Giuseppina
Ursini, Matilde Valeria
HUMAN MUTATION, 2009, 30 (09) : 1284 - 1291
[10] Locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28
Auricchio, A
Brancolini, V
Casari, G
Milla, PJ
Smith, VV
Devoto, M
Ballabio, A
AMERICAN JOURNAL OF HUMAN GENETICS, 1996, 58 (04) : 743 - 748

← 1 2 3 4 5 →