title: Experience with multiplex ARMS (MARMS)-PCR for the detection of common β-thalassemia mutations in India.
abstract: Beta (β) 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.925G > 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 β Thalassemia in Indian populations.
authors.affiliation: B. J. Wadia Hospital for Children, Child Health and Research Society, A. D. Marg, Parel Mumbai, Maharashtra, India. chitrathakur@hotmail.com
authors.forename: Chitra Thakur
authors.initials: CT
authors.lastname: Mahadik
mesh_terms: D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007194:India; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods*; D009154:Mutation; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D004247:DNA