Linked Life Data

10464622

Source:http://linkedlifedata.com/resource/pubmed/id/10464622

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1999-9-28
pubmed:abstractText
Fanconi anemia (FA) is an autosomal recessive disorder characterized clinically by progressive pancytopenia, diverse congenital abnormalities, and a predisposition to malignancy, particularly acute myelogenous leukemia (AML). Hypersensitivity of FA cells to the clastogenic effect of crosslinking agents such as diepoxybutane (DEB) is used as a diagnostic criterion, because phenotypic heterogeneity makes clinical diagnosis difficult. Studies of genetic heterogeneity have shown that there are at least five different complementation groups, FA-A through FA-E. Overall, FA-A is the most prevalent group, accounting for 60%-65% of all FA. The FAA gene, which maps to chromosome 16q24.3, was recently isolated and methods for molecular diagnosis of FA-A are currently being developed. The first FA gene to be isolated (FAC) maps to chromosome 9q22.3; FA-C accounts for 10%-15% of FA. A variety of mutations and polymorphisms have been described in FAC. The most common of these is IVS4 +4 A-->T, which is the only FAC mutation found in Ashkenazi Jewish FA patients and their families. This mutation has not been found in any affected individual of non-Jewish ancestry. The carrier frequency of the IVS4 mutation was found to be 1 in 89 (1.1%; 95% confidence interval 0.79% to 1.56%) in an Ashkenazi Jewish population, whereas no carriers were identified in an Iraqi Jewish population, which represents the original gene pool of the Jews. We have developed amplification refractory mutation system (ARMS) assays for FAC mutations, which provide a means of rapid, nonradioactive genetic testing. These assays have been used to assign FA patients to Group C, to provide rapid carrier testing and prenatal diagnosis for FA-C families.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
1090-6576
pubmed:author
pubmed:issnType
Print
pubmed:volume
1
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
27-33
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1997
pubmed:articleTitle
Fanconi anemia: genetic testing in Ashkenazi Jews.
pubmed:affiliation
Laboratory of Human Genetics and Hematology, Rockefeller University, New York, NY 10021, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Review, Research Support, Non-U.S. Gov't