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Neonatal screening for amino acidaemias in Karnataka, south India

Rao, Appaji N and Devi, Radha Rama A and Savithri, HS and Rao, Venkat S and Bittles, AH (1988) Neonatal screening for amino acidaemias in Karnataka, south India. In: Clinical Genetics, 34 (1). pp. 60-63.

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Official URL: http://onlinelibrary.wiley.com/doi/10.1111/j.1399-...


Consanguineous marriages are strongly favoured among the peoples of South India. Because of the potential genetic risks resulting from inbreeding, a neonatal screening project was established in 1980 in the state of Karnataka for the identification of amino acidaemias. To date, blood samples obtained by toe-stab from 98,256 neonates have been tested by thin layer chromatography, with 46 single and 70 general amino acidaemias detected. The coefficients of inbreeding (F) for the two groups of neonates were 0.0336 and 0.0350, by comparison with a previously determined F value for the general, new-born population of 0.0298. The most common single abnormality detected was tyrosinaemia, with spontaneous resolution in the majority of cases.

Item Type: Journal Article
Publication: Clinical Genetics
Publisher: John Wiley and Sons
Additional Information: Copyright of this article belongs to John Wiley and Sons.
Keywords: Amino acidaemias;neonatal;screening;South India.
Department/Centre: Division of Biological Sciences > Biochemistry
Date Deposited: 23 Sep 2010 09:11
Last Modified: 23 Sep 2010 09:11
URI: http://eprints.iisc.ac.in/id/eprint/32396

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