Neonatal screening for amino acidaemias in Karnataka, South India

Appaji Rao, N. ; Radha Rama Devi, A. ; Savithri, H. S. ; Venkat Rao, S. ; Bittles, A. H. (1988) Neonatal screening for amino acidaemias in Karnataka, South India Clinical Genetics, 34 (1). pp. 60-63. ISSN 0009-9163

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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:Article
Source:Copyright of this article belongs to John Wiley and Sons, Inc.
Keywords:Amino Acidaemias; Neonatal; Screening; South India
ID Code:21243
Deposited On:20 Nov 2010 13:16
Last Modified:28 Dec 2012 05:13

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