"Killer-cell immunoglobulin-like receptor haplotype diversity in three Free State population groups"

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Date
2006-11
Authors
Louw, Marius
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University of the Free State
Abstract
English: In the foregoing project, an investigation was made into the relative KIR gene frequencies of three South African cohorts. Playing an important part in innate immunity, KIR fill a vital gap between viral onsets and cell mediated humeral immunity. Being able to sense when cells are abnormal, NK cells possess the ability to destroy cells which show altered HLA molecules during KIR/HLA interaction. Ethnic cohorts that were investigated included African black, mixed ancestry and the Caucasian populations. From these individuals DNA material was extracted using a “salting out” method before SSP-PCR genotyping. Seventeen primer pairs were used in the identification of individual KIR genes. PCR products were electrophoresed against a molecular weight marker in order to verify the correct fragment size. Products were viewed on a UV light where observations were noted, and indicated as present or absent. Data was recorded onto a spreadsheet indicating the absence or presence of each particular gene. Tabulated results were used in the construction of graphs as well as χ2 calculations. These graphs were used in the critical analysis of linkage disequilibrium as well as comparative analysis between the ethnic cohorts. Findings indicate that all framework genes are present in all cohorts. The Black African and mixed ancestry cohorts have not been genotyped for the KIR genes before. Investigation within non-framework genes revealed the identification of several new haplotypes, with the majority observed within the mixed ancestry cohort. Positive linkage disequilibrium was detected between 2DL2-2DS2 and 2DL5B-2DS5 for both the black African and Caucasian cohorts while 2DL1-2DL2 and 2DL5B- 2DS5 linkages were found in the mixed ancestry population. No negative linkages were observed for any of the three cohorts.
Afrikaans: In die meegaande projek is daar ’n ondersoek gedoen na die interval voorkoms van KIR gene in drie Suid Afrikaanse studiegroepe. KIR speel ’n belangrike rol in immuniteit deur die vulling van is gaping tussen virus besmetting en sel-gemediëerde immuniteit. As gevolg van die vermoë om abnormale selle waar te neem, besit moordselle die vermoë om selle te vernietg wanneer ’n abnormale HLA molekule uitgedruk word tydens KIR/HLA interaksie. Swart, kleurling en blanke etniese groepe is ingesluit in die studie. DNA is van indiwidue verkry deur gebruik te maak van die “uitsout” proses voor SSP-PCR genotipering. Sewentien inleiër pare was gebruik in die identifisering van die individuele KIR gene. Die elektroforese van die PCR produkte is dan opgeweeg teen ’n molekulêre gewigsaanwyser om die korrekte grootte te bepaal. Die eindprodukte is besigtig onder ’n ultraviolet lig en aangeteken as teenwoordig al dan nie. Die inligting is aangeteken in ’n tabel met die aanduiding van elke geen as teenwoordig al dan nie. Hierdie tabelle is dan gebruik vir grafiese en Chi2 verwerking. Hierdie grafieke is gebruik vir ’n kritiese analiese van koppelversteurings binne die etniese groepe. Die resultate bevestig dat al die raamwerkgene 100 % teenwoordig is binne al drie groepe. Die swart en kleurling groepe is nie voorheen vir KIR tipeer nie. Ondersoek binne die nie-raamwerk gene het gelei tot die ontdekking van nuwe haplotipes, waarvan die meeste waargeneem is binne die kleurling groep. Positiewe koppelversteurings is gevind tussen 2DL2-2DS2 en 2DL5B-2DS5 vir beide die blanke en swart groepe terwyl 2DL1-2DL2 en 2DL5B-2DS5 koppelvesteurings binne die kleurling groep vertoon het. Geen negatiewe koppel versteurings is waargeneem binne enige van die groepe nie.
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Dissertation (M.Med.Sc. (Haematology and Cell Biology))--University of the Free State, 2006, Immunology, Killer cells, Cell-mediated cytotoxicity
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