| Affiliation: | (1) Department of Health Evaluation Sciences, Penn State College of Medicine, 17033 Hershey, PA, USA;(2) Department of Cellular and Molecular Physiology, Penn State College of Medicine, 17033 Hershey, PA, USA;(3) Department of Pediatrics, Penn State College of Medicine, 17033 Hershey, PA, USA;(4) Department of Obstetrics and Gynecology, Penn State College of Medicine, 17033 Hershey, PA, USA |
| Abstract: | Background SP-A, SP-B, and SP-D are pulmonary surfactant proteins. Several linkage and association studies have been done using these genes as markers to locate pulmonary disease susceptibility genes, but few have studied the markers systematically in different ethnic groups. Here we studied eight markers in SP-A, SP-B, and SP-D genes in seven ethnic groups from three races (Caucasian, Black and Hispanic). We measured the similarity of the marker distribution among the ethnic groups in order to see whether people in different ethnic groups or races could be mixed together for linkage and association studies. To evaluate the usefulness of these markers, we estimated the informativeness of each marker loci in the seven ethnic groups by assessing their heterozygosity and PIC values. We also conducted linkage disequilibrium (LD) analysis to identify associated marker loci and to estimate the haplotype frequencies in each of the seven ethnic groups in an attempt to find valuable haplotypes so that the level of polymorphism of the "markers" could be increased. |
