Rare β-thalassemia mutations in Asian Indians

Agarwal, Sarita ; Hattori, Y. ; Agarwal, S. S. (2000) Rare β-thalassemia mutations in Asian Indians American Journal of Hematology, 65 (4). pp. 322-323. ISSN 0361-8609

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Official URL: http://onlinelibrary.wiley.com/doi/10.1002/1096-86...

Related URL: http://dx.doi.org/10.1002/1096-8652(200012)65:4<322::AID-AJH14>3.0.CO;2-2


Among 365 carriers of β-thalassemia, 13 subjects remained uncharacterized after ARMS analysis. Among these 13 individuals, 8 mutations were identified by direct sequencing of the PCR-amplified product, which have not been described in Asian Indians earlier. These included (1) T-C substitution at IVS II position 591, a new β-thalassemia mutation which probably creates an alternative donor splice site in antisense strand; (2) the mutations CoD4 (T-A), CoD5 (C-T), CoD6 (G-T) at cis location; (3) CoD13 (C-T), CoD26 (G-A), CoD 27/28(-C) at cis location; (4) CoD 8 (A-G); (5) CoD30 (G-C); (6) CoD5 (-CT); (7) IVSI-1 (G-A); and (8) FS47/48 (+ATCT). The latter four have been described in other populations but are identified in Asian Indians for the first time. This completes the characterization of β-thalassemia mutations in 365 carriers of Asian Indian origin, enabling us to provide a comprehensive prenatal diagnosis of β-thalassemia in our population.

Item Type:Article
Source:Copyright of this article belongs to John Wiley and Sons.
Keywords:β-thalassemia; Asian Indians; Prenatal Diagnosis
ID Code:64171
Deposited On:05 Oct 2011 10:57
Last Modified:05 Oct 2011 10:57

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