Linked Life Data

1619631

Source:http://linkedlifedata.com/resource/pubmed/id/1619631

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1992-7-31
pubmed:abstractText
The utility of the pfxa3 probe for direct molecular diagnosis of the fragile X (FRAXA) has been established. This probe detects amplification of an unstable DNA element consisting of variable length CCG repeats. The size of the amplified fragment is correlated with phenotype and was determined using PstI digested DNA in family members. In 35 families with the fragile X, there was correspondence in 183 cases between the presence of an amplified unstable element and the presence of the fragile X chromosome independently determined by cytogenetics, position in the pedigree, or linked DNA markers flanking the fragile X. There was also correspondence in 124 cases between the presence of the normal 1.0 kb PstI fragment and absence of the fragile X chromosome independently determined by linked flanking markers. Six additional families considered to be isolated cases of 'fragile X' had been diagnosed before recognition of FRAXD. The pfxa3 probe confirmed the cytogenetic diagnosis in three families, the other three being rediagnosed as non-fragile X. A further two families had consistent expression of a different folate sensitive fragile site, FRAXE, close to FRAXA but not associated with fragile X syndrome and not detectable with the pfxa3 probe. Subsequent referrals were received from additional family members or from members of new families for whom carrier status had not been predetermined by linked markers. Direct pfxa3 diagnosis for the 135 females within these 222 additional cases was confirmed by dosage analysis with the control probe pS8.(ABSTRACT TRUNCATED AT 250 WORDS)
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/1619631-1675488, http://linkedlifedata.com/resource/pubmed/commentcorrection/1619631-1681307, http://linkedlifedata.com/resource/pubmed/commentcorrection/1619631-1710175, http://linkedlifedata.com/resource/pubmed/commentcorrection/1619631-1757956, http://linkedlifedata.com/resource/pubmed/commentcorrection/1619631-1760838, http://linkedlifedata.com/resource/pubmed/commentcorrection/1619631-17797906, http://linkedlifedata.com/resource/pubmed/commentcorrection/1619631-1944467, http://linkedlifedata.com/resource/pubmed/commentcorrection/1619631-1944473, http://linkedlifedata.com/resource/pubmed/commentcorrection/1619631-2035525, http://linkedlifedata.com/resource/pubmed/commentcorrection/1619631-2184120, http://linkedlifedata.com/resource/pubmed/commentcorrection/1619631-2323087, http://linkedlifedata.com/resource/pubmed/commentcorrection/1619631-2564838, http://linkedlifedata.com/resource/pubmed/commentcorrection/1619631-2886048, http://linkedlifedata.com/resource/pubmed/commentcorrection/1619631-2902797, http://linkedlifedata.com/resource/pubmed/commentcorrection/1619631-3838733
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0022-2593
pubmed:author
pubmed:issnType
Print
pubmed:volume
29
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
368-74
pubmed:dateRevised
2010-9-9
pubmed:meshHeading
pubmed:year
1992
pubmed:articleTitle
Experience with direct molecular diagnosis of fragile X.
pubmed:affiliation
Department of Cytogenetics and Molecular Genetics, Adelaide Children's Hospital, South Australia.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't