Linked Life Data

19150994

Source:http://linkedlifedata.com/resource/pubmed/id/19150994

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2009-1-19
pubmed:abstractText
Health schemes are promoting application of molecular diagnosis and screening in peripheral diagnostics labs. Intragenic restriction fragment length polymorphisms in the intron 18 (BclI), intron 19 (HindIII), and intron 22 (XbaI) of the Factor VIII gene were studied in 100 patients with hemophilia A and their relatives at risk from different regions of north India. For Bcl I, HindIII, and XbaI, the positive allele frequency was 0.57, 0.38, and 0.43, respectively, and heterozygosity was 0.54, 0.49, 0.41, respectively, whereas the heterozygosity in terms of informativity of the above markers was 53% for BclI, 44% for HindIII, and 34% for XbaI. Combined informativity of these markers was 77%. Review of Indian and world literature shows a marked variation in the informativity of polymorphic sites. Screening for carriers forms the baseline for prevention of hemophilia A. Polymerase chain reaction-restriction fragment length polymorphism is a low-cost procedure, efficient in the north Indian population.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1076-0296
pubmed:author
pubmed:issnType
Print
pubmed:volume
15
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
78-83
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Screening for hemophilia A carriers: utility of PCR-RFLP--based polymorphism analysis.
pubmed:affiliation
Genetics Lab, Department of Pathology, King George's Medical University, Lucknow, India.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't