ORIGINAL ARTICLE
Year : 2005 | Volume
: 11 | Issue : 2 | Page : 76--79
Detection of two rare β -thalassemia mutations [-90 (C ® T) and CD 26 (C ®T)] among Indians
A Gorakshakar, S Phanasgaonkar, R Colah, D Mohanty
Institute of Immunohaematology (ICMR), Parel, Mumbai, India
Correspondence Address:
R Colah
Institute of Immunohaematology (ICMR), 13th Floor, New Building, K.E.M. Hospital, Parel, Mumbai
India
BACKGROUND : β -Thalassemia (β -thal) is present in practically every caste group in Indians. Molecular characterization of β -thal in these groups has revealed an extremely heterogeneous picture.
AIM : To identify all the mutations and to detect the novel mutations using a versatile mutation detection technique.
MATERIALS AND METHODS : Denaturing gradient gel electrophoresis (DGGE) has been established to scan the entire β -globin gene to localize the mutation followed by DNA sequencing for characterization. The DNA samples from two families referred to us either for prenatal diagnosis or for DNA studies were studied.
RESULTS : Atypical DGGE patterns in fragments B & A indicating the presence of the mutation, have been detected in both the families. DNA sequencing revealed two rare patterns fragments with patterns in fragments β -thal mutations [CD 26 (C®T) and -90 (C®T)].
CONCLUSION : DGGE is a useful mutation detection technique to identify β -thal mutations among the heterogeneous Indian population.
How to cite this article:
Gorakshakar A, Phanasgaonkar S, Colah R, Mohanty D. Detection of two rare β -thalassemia mutations [-90 (C ® T) and CD 26 (C ®T)] among Indians.Indian J Hum Genet 2005;11:76-79
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How to cite this URL:
Gorakshakar A, Phanasgaonkar S, Colah R, Mohanty D. Detection of two rare β -thalassemia mutations [-90 (C ® T) and CD 26 (C ®T)] among Indians. Indian J Hum Genet [serial online] 2005 [cited 2013 Jun 18 ];11:76-79
Available from: http://www.ijhg.com/article.asp?issn=0971-6866;year=2005;volume=11;issue=2;spage=76;epage=79;aulast=Gorakshakar;type=0 |
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