Document Detail


Molecular characterization of Fanconi anaemia group C (FAC) gene polymorphisms.
MedLine Citation:
PMID:  8799375     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Fanconi anaemia (FA) is a genetically heterogeneous disease with defects in at least five genes. The gene for complementation group C (FAC) has been cloned and mapped to chromosome 9q22.3 in the interval between D9S280 and D9S287. Linkage analysis is a rapid tool for the exclusion of FA families from complementation group C. The currently available markers are informative microsatellites flanking FAC and an intragenic restriction fragment length polymorphism (RFLP). In this paper, the identification of three CA polymorphic repeats localized in introns-1a, 2 and 3 and one rare variant in exon 2 are reported. The new microsatellites will enable more accurate analysis not only of FA but also in families affected by multiple self-healing squamous epitheliomata (ESS1) and nevoid basal cell carcinoma (NBCCS), since the genes of both syndromes have been mapped in the same interval as FAC.
Authors:
A Savoia; M Centra; L Ianzano; G Pio de Cillis; M Buchwald; L Zelante
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Molecular and cellular probes     Volume:  10     ISSN:  0890-8508     ISO Abbreviation:  Mol. Cell. Probes     Publication Date:  1996 Jun 
Date Detail:
Created Date:  1996-10-16     Completed Date:  1996-10-16     Revised Date:  2012-02-27    
Medline Journal Info:
Nlm Unique ID:  8709751     Medline TA:  Mol Cell Probes     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  213-8     Citation Subset:  IM    
Affiliation:
I.R.C.C.S.-Ospedale C.S.S., Servizio di Genetica Medica, San Giovanni Rotondo, Foggia, Italy.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/X94648;  X94652;  X94674;  X94675
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MeSH Terms
Descriptor/Qualifier:
Base Sequence
DNA / genetics
Exons
Fanconi Anemia / genetics*
Genetic Variation
Molecular Sequence Data
Polymerase Chain Reaction
Polymorphism, Genetic / genetics*
Repetitive Sequences, Nucleic Acid
Grant Support
ID/Acronym/Agency:
E.0364//Telethon
Chemical
Reg. No./Substance:
9007-49-2/DNA

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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