Molecular pathology of haemophilia B: identification of five novel mutations including a LINE 1 insertion in Indian patients
IR@IICB: CSIR-Indian Institute of Chemical Biology, Kolkata
View Archive Info| Field | Value | |
| Title |
Molecular pathology of haemophilia B: identification
of five novel mutations including a LINE 1 insertion
in Indian patients
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| Creator |
Mukherjee, S
Mukhopadhyay, A Banerjee, D Chandak, G. R Ray, Kunal |
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| Subject |
Molecular & Human Genetics
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| 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.
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| Publisher |
Blackwell Publishing
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| Date |
2004
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| Type |
Article
PeerReviewed |
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| Format |
application/pdf
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| 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. |
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| Relation |
http://dx.doi.org/10.1111/j.1365-2516.2004.00895.x
http://www.eprints.iicb.res.in/525/ |
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