Single nucleotide and copy number polymorphisms of the SULT1A1 gene in a South African Tswana population group
| Autor: | Hlengiwe P. Mbongwa, Gerhard Koekemoer, Petrus Jacobus Pretorius, Carolus J. Reinecke, A. Kruger |
|---|---|
| Přispěvatelé: | 10176705 - Pretorius, Petrus Jacobus, 10055037 - Reinecke, Carolus Johannes |
| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
code number
Science (General) Science Population Social Sciences Biology General Biochemistry Genetics and Molecular Biology law.invention polymorphism lcsh:Social Sciences Q1-390 Chromosome 16 Gene mapping law copy number Genotype Allele lcsh:Social sciences (General) education lcsh:Science lcsh:Science (General) Allele frequency SULT1A1*1 Polymerase chain reaction SULT1A1*2 sulphonation Tswana H1-99 Genetics education.field_of_study allele frequency distribution Social sciences (General) lcsh:H PURE Study SULT1A1 General Earth and Planetary Sciences lcsh:Q lcsh:H1-99 Restriction fragment length polymorphism General Agricultural and Biological Sciences lcsh:Q1-390 |
| Zdroj: | South African Journal of Science, Vol 107, Iss 11/12 (2011) South African Journal of Science, Volume: 107, Issue: 11-12, Pages: 01-06, Published: 2011 |
| ISSN: | 1996-7489 |
| Popis: | Previous studies on gene mapping have firmly established variation in segments of the DNA structure amongst different population groups. SULT1A1 is one of four SULT1A genes that maps to the short arm of chromosome 16, and this area has been shown to contain many repetitive sequences and to be highly duplicated. Using the polymerase chain reaction (PCR)-based restriction fragment length polymorphism method, we set out to determine the SULT1A1 genotype and allele frequency distributions in the largest sample studied to date: a homogeneous South African Tswana population of 1867 individuals from the Prospective Urban and Rural Epidemiological (PURE) study, and found the SULT1A1*1 and SULT1A1*2 alleles present at a frequency of 0.68 and 0.32, respectively. This finding corresponded with those obtained for the Black, Caucasian, and mixed-race South African groups reported in previous studies. Next, using a quantitative multiplex PCR method to estimate the SULT1A1 gene number of copies in 459 subjects of our population, we discovered between one and five copies: 0.65% of the subjects had a single copy (allele deletion) and 60.14% of the subjects had three or more copies. Our findings correspond with an earlier study on a small African– American group, but differ from those based on two Caucasian groups. Whereas the genotype distribution was comparable to the Caucasian groups, there was a significant difference in the number of copies, which indicated a genetic link between Tswana and African–American populations despite differences in cultural lifestyle associated with their geographical location. http://dx.doi.org/10.4102/sajs.v107i11/12.395 http://www.sajs.co.za/index.php/SAJS |
| Databáze: | OpenAIRE |
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