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

Mukherjee, S. ; Mukhopadhyay, A. ; Banerjee, D. ; Chandak, G. R. ; Ray, K. (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. ISSN 1351-8216

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Official URL: http://doi.org/10.1111/j.1365-2516.2004.00895.x

Related URL: http://dx.doi.org/10.1111/j.1365-2516.2004.00895.x

Abstract

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.

Item Type:Article
Source:Copyright of this article belongs to John Wiley & Sons, Inc.
Keywords:Coagulation; Factor Ix; Haemophilia B; Line 1; Mutation.
ID Code:116983
Deposited On:15 Apr 2021 06:12
Last Modified:15 Apr 2021 06:12

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