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Molecular pathology of haemophilia B: identification of five novel mutations including a LINE 1 insertion in Indian patients

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Title Molecular pathology of haemophilia B: identification
of five novel mutations including a LINE 1 insertion
in Indian patients
 
Creator Mukherjee, S
Mukhopadhyay, A
Banerjee, D
Chandak, G. R
Ray, Kunal
 
Subject Molecular & Human Genetics
 
Description Heterogeneous mutations in factor IX
(FIX) gene cause haemophilia B and a large number
of mutations have been characterized. However,
reports on gene defects among Indian haemophilia B
patients are rare despite a high estimate of such
patients in the country. We report identification of
22 independent mutations including five novel mutations
in 24 unrelated patients. The novel gene defects
include two point mutations, two deletions and one insertion of a LINE 1 element. Majority of the
mutations (14 of 24) occurred on the same haplotype
background, but do not suggest any founder effect.
Direct identification of mutations can be utilized to
perform the carrier detection and prenatal diagnosis,
especially in families with isolated patients.
 
Publisher Blackwell Publishing
 
Date 2004
 
Type Article
PeerReviewed
 
Format application/pdf
 
Identifier http://www.eprints.iicb.res.in/525/1/HAEMOPHILIA%2C__10(_3)%2C__259%2D263__[61].pdf
Mukherjee, S and Mukhopadhyay, A and Banerjee, D and Chandak, G. R and Ray, Kunal (2004) Molecular pathology of haemophilia B: identification of five novel mutations including a LINE 1 insertion in Indian patients. Haemophilia, 10 (3). pp. 259-263.
 
Relation http://dx.doi.org/10.1111/j.1365-2516.2004.00895.x
http://www.eprints.iicb.res.in/525/