Affiliation: University of the Witwatersrand
Country: South Africa
- Molecular diagnosis of cystic fibrosis in South African populationsA Goldman
S Afr Med J 93:518-9. 2003
- Alcohol dehydrogenase-2*2 allele is associated with decreased prevalence of fetal alcohol syndrome in the mixed-ancestry population of the Western Cape Province, South AfricaD L Viljoen
Foundation for Alcohol Related Research and Department of Human Genetics, Faculty of Health Sciences, University of the Witwaterstrand, National Health Laboratory Service, Johannesburg, South Africa
Alcohol Clin Exp Res 25:1719-22. 2001..Known polymorphisms of the alcohol dehydrogenase-2 (ADH2) gene resulting in isozymes with different alcohol oxidizing capacities were investigated as possible candidates for influencing the risk for FAS...
- In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identifiedP Manga
Department of Human Genetics, School of Pathology, The South African Institute for Medical Research and University of the Witwatersrand, Johannesburg, 2000, South Africa
Am J Hum Genet 68:782-7. 2001..7-kb deletion, D15S219, and D15S156) revealed several BOCA-associated P haplotypes. These could be divided into two core haplotypes, suggesting that a limited number of P-gene mutations give rise to this phenotype...
- Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South AfricaW Van Hougenhouck-Tulleken
Division of Human Genetics, National Health Laboratory Service and School of Pathology, University of Witwatersrand, Johannesburg, South Africa
Br J Dermatol 151:413-23. 2004..As LiP patients present with considerable clinical variability, this group of patients offers a unique opportunity for genotype-phenotype correlation...
- Chimerism in black southern African patients with true hermaphroditism 46,XX/47XY,+21 and 46,XX/46,XYM Ramsay
Division of Human Genetics, National Health Laboratory Service and School of Pathology, University of the Witwatersrand, Johannesburg, South Africa
Ann N Y Acad Sci 1151:68-76. 2009..Cases 2 and 3 both have a 46,XX/46,XY karyotype. Chimerism is supported by molecular analysis in Case 2, and molecular studies were not done for Case 3...
- Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan AfricaR Kerr
Department of Human Genetics, The South African Institute for Medical Research and University of the Witwatersrand, Johannesburg, South Africa
Hum Mutat 15:166-72. 2000..Relatively few mutations, all with low frequency, were identified in the non-2.7 kb deletion OCA genes. We propose that other mutations may lie either within intronic sequence or within the promoter region of the gene...
- A two allele XbaI RFLP at the catalase 2 locusM A Colman
Department of Human Genetics, School of Pathology, South African Institute for Medical Research, Johannesburg
Nucleic Acids Res 19:960. 1991
- High polymorphism at the human melanocortin 1 receptor locusB K Rana
Human Genetics Center, School of Public Health and Graduate School of Biomedical Sciences, University of Texas, Houston, Texas 77030, USA
Genetics 151:1547-57. 1999..In addition, the nucleotide diversity at the MC1R locus is shown to be several times higher than the average nucleotide diversity in human populations, possibly due to diversifying selection...