Genotyping for known Mediterranean -thalassemia point mutations using a multiplex amplification refractory mutation system
نویسندگان
چکیده
منابع مشابه
Detection of the most common mutations causing beta-thalassemia in Mediterraneans using a multiplex amplification refractory mutation system (MARMS).
A rapid, simple, cost-effective, non-radioactive method for detection of the most common mutations causing beta-thalassemia in Mediterranean people has been developed by combining multiplexing with the amplification refractory system. This approach, the multiplex amplification refractory mutation system (MARMS), provides an easy assay for direct detection of normal and mutant beta-globin genes ...
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AIMS To detect HLA susceptibility and protective alleles associated with insulin dependent diabetes mellitus (IDDM) using a multiplex amplification refractory mutation system (ARMS). These include DR3 and DR4 alleles at the DRB1 locus, presence or absence of aspartic acid at position 57 (Asp-57) of the DQB1 locus, and presence or absence of arginine at position 52 (Arg-52) of the DQA1 locus. ...
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BACKGROUND: Faisalabad is the third biggest city of Pakistan. Majority of the population is Punjabi while other ethnic groups are in minority. AIMS: The present study was undertaken to find the mutations causing β-thalassemia in Faisalabad Pakistan. MATERIALS AND METHODS: A total of 285 β-globin alleles from 143 unrelated families having at least one transfusion-dependent child were analyzed by...
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Schizophrenia is a severe neuropsychiatric disorder with symptoms such as hallucination, delusion and mental disorder. It is a complex disorder, in which genetic components play a crucial role in its pathogenesis. Among candidate genes for schizophrenia, Neuregulin 1 (NRG1) gene is the most important gene, association of which with the illness has been confirmed in several studies. Single nucl...
متن کاملMultiplex amplification refractory mutation system (MARMS) for the detection of β-globin gene mutations among the transfusion-dependent β-thalassemia Malay patients in Kelantan, Northeast of Peninsular Malaysia.
The aim of this study was to adapt MARMS with some modifications to detect beta mutation in our cohort of thalassemia patients. We focused only on transfusion-dependent thalassemia Malay patients, the predominant ethnic group (95%) in the Kelantanese population. Eight mutations were identified in 46 out of 48 (95.83%) beta thalassemia alleles. Most of the patients (54.2%) were compound heterozy...
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ژورنال
عنوان ژورنال: Haematologica
سال: 2007
ISSN: 0390-6078,1592-8721
DOI: 10.3324/haematol.10736