Linked Life Data

1374633

Source:http://linkedlifedata.com/resource/pubmed/id/1374633

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1992-6-18
pubmed:abstractText
We have outlined a fast, non-radioactive strategy to identify point mutations in the 5' flanking region of the gamma-globin genes using denaturing gradient gel electrophoresis (DGGE) of amplified DNA. In a sample of previously characterized carriers of non deletion-type hereditary persistence of fetal haemoglobin (HPFH) the different point mutations in both gamma gene promoters could be easily identified by DGGE of a 327 bp fragment. A 4 bp deletion at position -225 to -222 of the A gamma globin gene was unexpectedly found in several samples and shown to represent a frequent polymorphism. Analysis of a 681 bp fragment specific for the 5' region of the A gamma gene, showed that this can be used to determine the haplotype of the chromosome under study. This technique may be useful in the study of sequence variations associated with high Hb F expression in physiological and pathological conditions.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0007-1048
pubmed:author
pubmed:issnType
Print
pubmed:volume
80
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
533-8
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed:year
1992
pubmed:articleTitle
Rapid identification by denaturing gradient gel electrophoresis of mutations in the gamma-globin gene promoters in non-deletion type HPFH.
pubmed:affiliation
Dipartimento di Scienze Biomediche e Oncologia Umana, Università di Torino, Italy.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't