UNIVERSI
TÄ
TS-
BIBLIOTHEK
P
ADERBORN
Anmelden
Menü
Menü
Start
Hilfe
Blog
Weitere Dienste
Neuerwerbungslisten
Fachsystematik Bücher
Erwerbungsvorschlag
Bestellung aus dem Magazin
Fernleihe
Einstellungen
Sprache
Deutsch
Deutsch
Englisch
Farbschema
Hell
Dunkel
Automatisch
Sie befinden Sich nicht im Netzwerk der Universität Paderborn. Der Zugriff auf elektronische Ressourcen ist
gegebenenfalls
nur via VPN oder Shibboleth (DFN-AAI) möglich.
mehr Informationen...
Universitätsbibliothek
Katalog
Suche
Details
Zur Ergebnisliste
Ergebnis 3 von 34
Datensatz exportieren als...
BibTeX
Mapping of MRX81 in Xp11.2-Xq12 suggests the presence of a new gene involved in nonspecific X-linked mental retardation
American journal of medical genetics. Part A, 2003-04, Vol.118A (3), p.217-222
Annunziata, Ida
Lanzara, Carmela
Conte, Ivan
Zullo, Alberto
Ventruto, Valerio
Rinaldi, Maria Michela
D'Urso, Michele
Casari, Giorgio
Ciccodicola, Alfredo
Miano, Maria Giuseppina
2003
Details
Autor(en) / Beteiligte
Annunziata, Ida
Lanzara, Carmela
Conte, Ivan
Zullo, Alberto
Ventruto, Valerio
Rinaldi, Maria Michela
D'Urso, Michele
Casari, Giorgio
Ciccodicola, Alfredo
Miano, Maria Giuseppina
Titel
Mapping of MRX81 in Xp11.2-Xq12 suggests the presence of a new gene involved in nonspecific X-linked mental retardation
Ist Teil von
American journal of medical genetics. Part A, 2003-04, Vol.118A (3), p.217-222
Ort / Verlag
New York: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
2003
Link zum Volltext
Quelle
Wiley Online Library - AutoHoldings Journals
Beschreibungen/Notizen
X‐linked nonspecific mental retardation (MRX) accounts for ∼25% of mental retardation in males. A number of MRX loci have been mapped on the X chromosome, reflecting the complexity of gene action in central nervous system (CNS) specification and function. Eleven MRX genes have been identified, but many other causative loci remain to be refined to the single gene level. In 21 MRX families, the causative gene is located in the pericentromeric region; and we report here the identification by linkage analysis of a further such locus, MRX81. The new MRX locus was identified by two‐ and multi‐point parametric analysis carried out on a large Italian family. Tight linkage of MRX81 to DNA markers ALAS2, DXS991, and DXS7132 was observed with a maximum LOD score of 3.43. Haplotype construction delineates an MRX81 critical region of 8 cM, the smallest MRX pericentromeric interval so far described, between DXS1039 and DXS1216, and placing it in Xp11.2‐Xq12. So far, automated sequencing of two candidates in the region, the MRX gene oligophrenin (OPHN1) and the brain‐specific ephrinB1 (EFNB1) gene, in DNA from affected males excluded their candidacy for MRX81, suggesting a novel disease gene. © 2003 Wiley‐Liss, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4825
eISSN: 1552-4833
DOI: 10.1002/ajmg.a.10144
Titel-ID: cdi_proquest_miscellaneous_73156319
Format
–
Schlagworte
5-Aminolevulinate Synthetase - genetics
,
Alleles
,
Centrosome - ultrastructure
,
Chromosome Mapping
,
Chromosomes, Human, X
,
Cytoskeletal Proteins
,
Databases as Topic
,
DNA Mutational Analysis
,
Ephrin-B1 - genetics
,
Exons
,
Family Health
,
Female
,
Genetic Linkage
,
Genotype
,
GTPase-Activating Proteins
,
Haplotypes
,
Humans
,
linkage analysis
,
Lod Score
,
Male
,
Mental Retardation, X-Linked - genetics
,
Models, Genetic
,
MRX candidate genes
,
MRX81
,
nonspecific X mental retardation
,
Nuclear Proteins - genetics
,
Pedigree
,
Phosphoproteins - genetics
,
Recombination, Genetic
,
Xp11.2-Xq12
Weiterführende Literatur
Empfehlungen zum selben Thema automatisch vorgeschlagen von
bX