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<records>

  <record>
    <language>eng</language>
          <publisher>Oriental Scientific Publishing Company</publisher>
        <journalTitle>Biosciences Biotechnology Research Asia</journalTitle>
          <issn>0973-1245</issn>
            <publicationDate>2016-01-27</publicationDate>
    
        <volume>3</volume>
        <issue>2</issue>

 
    <startPage>201</startPage>
    <endPage>202</endPage>

	    <publisherRecordId>4389</publisherRecordId>
    <documentType>article</documentType>
    <title language="eng">Beta Thalassaemia Mutation In Population Of Bhopal, Central India</title>

    <authors>
	 


      <author>
       <name>C.B.S. Dangi</name>

 
		
	<affiliationId>1</affiliationId>
      </author>
    

	 


      <author>
       <name>N.C. Sharma</name>


		
	<affiliationId>1</affiliationId>

      </author>
    

	 


      <author>
       <name>B.S. Dangi</name>

		
	<affiliationId>2</affiliationId>
      </author>
    

	


	


	
    </authors>
    
	    <affiliationsList>
	    
		
		<affiliationName affiliationId="1">Department of Genetics, Barkatullah University, Bhopal (India) </affiliationName>
    

		
		<affiliationName affiliationId="2">Department of Biochemistry, RKDF Dental College and Research Centre, Bhopal (India)</affiliationName>
    
		
		
		
		
	  </affiliationsList>






    <abstract language="eng">Thalassaemia is a major haemoglobinopathy of wide occurrence in the Indian sub-continent. It is distributed to different degrees in different sub-populations. The treatment of this disorder is quite expensive and counseling seems to be the only way for controlling it. Genetic analysis for Beta-thalassaemia blood disorder is detected by ARMS(Amplification Refractory Mutation System) tecnique. A total number of 43 cases obtain from OPD of Gandhi Medical College &amp; Delta Pathology Bhopal were tested for this disorder. Out of seven common Beta thal mutation (D.J. Weatherall &amp; J.B. Clegg), IVS1 nt 5 (G®C), IVS1nt 1(G®T), 619 bp deletion, Cap+1(A®C), -88 C®T,Fr 8-9(+G), Fr 41-42(-4bp) 39.52%, 16.27%, 18.59%, 6.97%, 0%, 0%, 0% respectively found in population of Bhopal. Early detection of thalassaemia is therefore important not only from treatment point of view, but also for the prevention by genetic counseling.</abstract>

    <fullTextUrl format="html">https://www.biotech-asia.org/vol3no2/beta-thalassaemia-mutation-in-population-of-bhopal-central-india/</fullTextUrl>



      <keywords language="eng">
        <keyword>Beta-thalassaemia; Central India; Mutation; PCR; Genetic Counseling; Prenatal Diagosis</keyword>
      </keywords>

  </record>
</records>