Genetic structure of a unique admixed population: implications for medical research.

STATEMENT: In naming population groups, we think a chief aim is to use terms that the group members use themselves, or find familiar and comfortable. The terms used in this manuscript to describe populations are as historically correct as possible and are chosen so as not to offend any population group. Two of the authors (DCP and REvdR) belong to the Coloured population, with one of the authors (REvdR) having contributed extensively to current literature on the history of the Coloured people of South Africa and served as Vice-President of the South African Institute of Race Relations. According to the 2001 South African census (http://www.statssa.gov.za/census01/HTML/CInBrief/CIB2001.pdf), "Statistics South Africa continues to classify people by population group, in order to monitor progress in moving away from the apartheid-based discrimination of the past. However, membership of a population group is now based on self-perception and self-classification, not on a legal definition. Five options were provided on the questionnaire, Black African, Coloured, Indian or Asian, White and Other. Responses in the category 'Other' were very few and were therefore imputed". We have elected to use the term Bushmen rather than San to refer to the hunter-gatherer people of Southern Africa. Although they have no collective name for themselves, this decision was based on the term Bushmen (or Bossiesman) being the more familiar to the communities themselves, while the term San is the more accepted academic classification. Understanding human genetic structure has fundamental implications for understanding the evolution and impact of human diseases. In this study, we describe the complex genetic substructure of a unique and recently admixed population arising approximately 350 years ago as a direct result of European settlement in South Africa. Analysis was performed using over 900 000 genome-wide single nucleotide polymorphisms in 20 unrelated ancestry-informative marker selected Coloured individuals and made comparisons with historically predicted founder populations. We show that there is substantial genetic contribution from at least four distinct population groups: Europeans, South Asians, Indonesians and a population genetically close to the isiXhosa sub-Saharan Bantu. This is in good accord with the historical record. We briefly examine the implications of determining the genetic diversity of this population, not only for furthering understanding of human evolution out of Africa, but also for genome-wide association studies using admixture mapping. In conclusion, we define the genetic structure of a uniquely admixed population that holds great potential to advance genetic-based medical research.

Multitapered x-ray capillary optics for mammography.

X-ray mammography is currently the primary tool used for breast cancer detection. However, studies have shown that 5%-15% of breast cancers are not visualized mammographically. The long term goal of this project is to improve the x-ray mammographic imaging system using capillary optics. A post-patient capillary optic lens has the potential to increase spatial resolution and eliminate the detection of scattered x rays, thereby improving image contrast and the signal-to-noise ratio (SNR). Several individual and two prototype multitapered optics were studied to determine the feasibility of a full-field multitapered optic. Scatter fraction, contrast, transmission, uniformity, and the modulation transfer function (MTF) were measured for a Mo target tube/computed radiography (CR) imaging system when this prototype was applied. The results were compared with standard grid and airgap techniques. The multitapered optic lens removed 85% of the scattered photons as compared to 66% and 39% for the air gap and grid methods, respectively. This resulted in an improvement of contrast by approximately 80% for the optics, 51% for the air gap, and 30% for grid methods. The single optic lens improved the limiting resolution (5% MTF level) of the CR detector by 78% due to magnification with very little focal spot blurring, while the multitapered prototype improved resolution significantly, but not as much as the single optic. These measurements have shown that it is feasible to create a multitapered optic lens that significantly improves system MTF and virtually eliminates scatter. With continued improvements in fabrication techniques, a full-field multitapered lens will be feasible.