Publisher: Bentham Science Publishers
E-ISSN: 1875-6182|10|1|14-24
ISSN: 1871-5257
Source: Cardiovascular & Hematological Agents in Medicinal Chemistry (Formerly Current Medicinal Chemistry - Cardiovascular & Hematological Agents), Vol.10, Iss.1, 2012-03, pp. : 14-24
Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.
Abstract
Beta (&bgr;) Thalassemia is a common globin gene disorder in India. Although about 65 different mutations are known in the multiethnic populations of India, the group of 9 ‘core mutations’, i.e. IVSI,5 (G>C){HBB:c.92+5G>C}, 619 base pair deletion(bp del){NG_000007.3:g.71609_72227del619}, FS8/9 (+G){HBB:c.27_28insG}, IVSI,1 (G>T) {HBB:c.92G>T}, FS41/42 (-CTTT){HBB:c.124_127del-CTTT}, C15 (G>A){HBB:c.47G>A}, FS16 (-C){HBB:c.51delC}, C30 (G>C){HBB:c.93G>C} and C5 (-CT){HBB:c17_18delCT} cover about 96% of mutations in the carriers. We attempted a multiplex PCR to detect these mutations using ARMS method and strategized it in high risk groups of western India. The system was found reliable, cost effective, fast and most applicable for mutation screening of &bgr; Thalassemia in Indian populations.
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