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The molecular basis of transferase galactosaemia in South African negroids.
J Inherit Metab Dis. 1999 Feb; 22(1):37-42.JI

Abstract

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.

Authors+Show Affiliations

Department of Human Genetics, School of Pathology, South African Institute for Medical Research, Johannesburg, South Africa.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

10070616

Citation

Manga, N, et al. "The Molecular Basis of Transferase Galactosaemia in South African Negroids." Journal of Inherited Metabolic Disease, vol. 22, no. 1, 1999, pp. 37-42.
Manga N, Jenkins T, Jackson H, et al. The molecular basis of transferase galactosaemia in South African negroids. J Inherit Metab Dis. 1999;22(1):37-42.
Manga, N., Jenkins, T., Jackson, H., Whittaker, D. A., & Lane, A. B. (1999). The molecular basis of transferase galactosaemia in South African negroids. Journal of Inherited Metabolic Disease, 22(1), 37-42.
Manga N, et al. The Molecular Basis of Transferase Galactosaemia in South African Negroids. J Inherit Metab Dis. 1999;22(1):37-42. PubMed PMID: 10070616.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The molecular basis of transferase galactosaemia in South African negroids. AU - Manga,N, AU - Jenkins,T, AU - Jackson,H, AU - Whittaker,D A, AU - Lane,A B, PY - 1999/3/10/pubmed PY - 1999/3/10/medline PY - 1999/3/10/entrez SP - 37 EP - 42 JF - Journal of inherited metabolic disease JO - J Inherit Metab Dis VL - 22 IS - 1 N2 - 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. SN - 0141-8955 UR - https://www.unboundmedicine.com/medline/citation/10070616/The_molecular_basis_of_transferase_galactosaemia_in_South_African_negroids_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0141-8955&date=1999&volume=22&issue=1&spage=37 DB - PRIME DP - Unbound Medicine ER -