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The molecular basis of transferase galactosaemia in South African negroids
Author(s) -
Manga N.,
Jenkins T.,
Jackson H.,
Whittaker D. A.,
Lane A. B.
Publication year - 1999
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005491014280
Subject(s) - galactosemia , genetics , allele , negroid , mutation , biology , allele frequency , gene , medicine , galactose , biochemistry , epidemiology
Transferase galactosaemia is an autosomal recessively inherited disorder caused by a deficiency of galactose‐1‐phosphate uridyltransferase (GALT). Manifestations include jaundice, vomiting, cataracts, mental retardation, speech abnormalities and poor growth. The GALT gene has been mapped and sequenced. The S135L mutation accounts for approximately 48% of galactosaemia alleles in African Americans and has been found to account for about 91% of galactosaemia alleles in negroid South African patients which suggested that the mutation had an African origin. We have calculated the S135L allele frequency (±1SE) in a sample of healthy unrelated negroid South Africans to be 0.0067 (±0.0024). The S135L mutation was also detected in negroid populations from other regions of Africa confirming its African origin.