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 10 von 16
Datensatz exportieren als...
BibTeX
Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis
Human mutation, 2005-07, Vol.26 (1), p.59-59
White, Stefan J.
de Willige, Shirley Uitte
Verbove, Dennis
Politano, Luisa
Ginjaar, Ieke
Breuning, Martijn H.
den Dunnen, Johan T.
2005
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
White, Stefan J.
de Willige, Shirley Uitte
Verbove, Dennis
Politano, Luisa
Ginjaar, Ieke
Breuning, Martijn H.
den Dunnen, Johan T.
Titel
Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis
Ist Teil von
Human mutation, 2005-07, Vol.26 (1), p.59-59
Ort / Verlag
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
2005
Quelle
MEDLINE
Beschreibungen/Notizen
We have designed Multiplex Amplifiable Probe Hybridization (MAPH) probes for 28 exons of the sarcoglycan genes SGCA, SGCB, SGCG, and SGCD. The set was used to screen DNA from limb‐girdle muscular dystrophy (LGMD) patients for the presence of pathogenic deletion or duplication mutations. An unexpected heterozygous deletion of SGCG exon 7 was detected in a patient from a consanguineous family in which a known c.525delT mutation segregates. The exon 7 deletion was inherited from the father, who was part of the consanguineous c.525delT branch of the family but who did not carry the c.525delT mutation. A similar, homozygous deletion had been identified in two unrelated LGMD patients from southern Italy. The deletion breakpoints were mapped, isolated, and sequenced, and were identical in all cases. Haplotype analysis showed the same alleles segregating with the mutation in all three patients, suggesting a common ancestor. Exonic deletions in sarcoglycanopathies appear to be rare events. However, we recommend screening for exonic deletions/duplications in patients where a mutation has not been identified in both alleles, as well as in seemingly homozygous cases where segregation of the mutations can not be confirmed in the parents. © 2005 Wiley‐Liss, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1059-7794
eISSN: 1098-1004
DOI: 10.1002/humu.9347
Titel-ID: cdi_proquest_miscellaneous_67953710
Format
–
Schlagworte
Alleles
,
Base Sequence
,
Consanguinity
,
deletion/duplication screening
,
Exons - genetics
,
Families & family life
,
Female
,
founder mutation
,
Genes
,
Genetic Testing
,
Haplotypes
,
Humans
,
Hybridization
,
LGMD
,
Male
,
MAPH
,
Molecular Sequence Data
,
Muscular Dystrophies - diagnosis
,
Muscular Dystrophies - genetics
,
Muscular Dystrophies - pathology
,
Mutation
,
Parents & parenting
,
Patients
,
Pedigree
,
Polymerase Chain Reaction
,
sarcoglycanopathy
,
Sarcoglycans - genetics
,
Sequence Deletion - genetics
,
SGCA
,
SGCB
,
SGCD
,
SGCG
Weiterführende Literatur
Empfehlungen zum selben Thema automatisch vorgeschlagen von
bX