The study is a population based analysis of genetic variation of blood group antigens in three defined, ancient and still conserved Ethiopian sub-populations. Blood samples will be collected in distinct remote areas of Ethiopia and be analyzed at DTM/CC/NIH using standard serologic methods and modern molecular genotyping systems. Samples of red blood cells, plasma, DNA and cDNA will also be stored for future additional study, like high throughput sequencing. The study will allow a systematic analysis of the distribution of blood group antigens in three Ethiopian sub-populations. The populations are known to differ in malaria and sickle cell disease prevalence and environmental factors like other tropical infectious diseases and oxygen pressure. The ethnic group living in the Ethiopian highland is possibly exposed to low oxygen pressure for the longest period of any human population. We expect to describe differences associated with environmental influences (high altitude, low land tropical, and low land desert). We also expect to detect new alleles that may allow novel insight into the correlation of genotypes and phenotypes. The study was examined by the IRB of NHLBI and approved through PCSC on 1/11/2011 as NIH protocol 11-CC-N086.

Agency
National Institute of Health (NIH)
Institute
Clinical Center (CLC)
Type
Investigator-Initiated Intramural Research Projects (ZIA)
Project #
1ZIACL002123-07
Application #
9549458
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
7
Fiscal Year
2017
Total Cost
Indirect Cost
Name
Clinical Center
Department
Type
DUNS #
City
State
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Yin, Qinan; Srivastava, Kshitij; Gebremedhin, Amha et al. (2018) Long-range haplotype analysis of the malaria parasite receptor gene ACKR1 in an East-African population. Hum Genome Var 5:26
Ouchari, Mouna; Srivastava, Kshitij; Döscher, Andrea et al. (2017) Serologic and molecular characterization of weak D type 29. Transfusion 57:2542-2544
Srivastava, Kshitij; Polin, Helene; Sheldon, Sherry Lynne et al. (2016) The DAU cluster: a comparative analysis of 18 RHD alleles, some forming partial D antigens. Transfusion 56:2520-2531
Srivastava, Kshitij; Lee, Eunah; Owens, Eric et al. (2016) Full-length nucleotide sequence of ERMAP alleles encoding Scianna (SC) antigens. Transfusion 56:3047-3054
Huvard, Michael J; Schmid, Pirmin; Stroncek, David F et al. (2012) Frequencies of SLC44A2 alleles encoding human neutrophil antigen-3 variants in the African American population. Transfusion 52:1106-11
Schmid, Pirmin; Ravenell, Kanaeko R; Sheldon, Sherry L et al. (2012) DARC alleles and Duffy phenotypes in African Americans. Transfusion 52:1260-7
Storry, J R; Castilho, L; Daniels, G et al. (2011) International Society of Blood Transfusion Working Party on red cell immunogenetics and blood group terminology: Berlin report. Vox Sang 101:77-82
Flegel, Willy A (2011) Molecular genetics and clinical applications for RH. Transfus Apher Sci 44:81-91
Schmid, Pirmin; Huvard, Michael J; Lee-Stroka, A Hallie et al. (2011) Red blood cell preservation by droplet freezing with polyvinylpyrrolidone or sucrose-dextrose and by bulk freezing with glycerol. Transfusion 51:2703-8
Fasano, Ross M; Monaco, Alessandro; Riehm Meier, Emily et al. (2010) RH genotyping in a sickle cell disease patient contributing to hematopoetic stem cell transplantation donor selection and management. Blood :

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