Mitochondrial DNA diversity in Mennonite communities from the midwestern United States.

We examined mitochondrial DNA (mtDNA) variation in six Mennonite communities from Kansas (Goessel, Lone Tree, Garden View, Meridian, and Garden City) and Nebraska (Henderson) to determine their genetic structure and its relationship to population history. Mitochondrial DNA haplogroup and haplotype information were obtained from blood samples from 118 individuals. Molecular genetic variation was analyzed using diversity measures, neutrality test statistics, spatial analysis of molecular variance (SAMOVA), and multidimensional scaling plots. The Mennonite samples exhibited eight western European mtDNA haplogroups: H, HV0, I, J, K, T, U, and X. Comparable to other populations of European descent, haplogroup H was the most frequent in all six communities and ranged from 35% in Lone Tree to 75% in Old Order Mennonites from Garden City. Fifty-eight different mtDNA haplotypes were found in these groups with only one shared among all six populations. Haplotype diversities varied from 0.81 in Goessel to 0.96 in Henderson and Garden View. Multivariate statistical analysis of these populations indicates that these Anabaptist communities formed new congregations by fissioning along familial lines. Population subdivision of these communities into congregations supports previously documented patterns of fission-fusion. These haploid molecular data provide a more accurate reflection of biological relationships between midwestern Mennonite communities than evidence based on classical genetic markers.

Biological aging and Cox hazard analysis of mortality trends in a Mennonite community from south-central Kansas.

This study investigated mortality in 568 individuals from the Goessel Mennonite community in rural central Kansas. There were three main objectives to this research: 1) characterize mortality trends within a biologically well-defined Mennonite community; 2) determine what biochemical, morphological, and physiological risk factors could be related to all-cause mortality, stratified by age and sex; and 3) compare these results to previously described variables that were associated with both biological age and mortality in this population. Mortality data were obtained from three sources: Kansas Vital Records, the Social Security death index, and church records. In total, 221 (39%) individuals were found to have died in this population between January 1980-June 2002. Analogous to the larger US population, the three leading causes of death in this community were heart disease, cancer, and stroke, accounting for 60% of all deaths. Besides advancing age, the greatest biological risk factor in this population was decreased amounts of albumin in men (relative risk, 2.47), potentially indicating underreported cases of either chronic kidney disease or frailty syndrome for males. Cox proportional hazard models demonstrated that increased amounts of total cholesterol may provide a protective effect for elderly individuals. We conclude, based on the previously described heritability of both albumin (h(2) = 0.40) and total cholesterol (h(2) = 0.50) in this population, that underlying genetic factors associated with both chronic degenerative diseases and biological aging may have important implications for understanding mortality patterns in this community.

Autosomal STR variation in a Basque population: Vizcaya Province.

We have characterized 68 unrelated Basque individuals from Vizcaya, Spain, for 13 tetrameric short tandem repeat (STR) loci: CSF1PO, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D21S11, FGA, TH01, TPOX, and VWA. Interpopulational analyses were also performed for 21 European and North African population data sets for nine of the STRs typed in the Basque sample. Heterozygosity values for the Vizcayan Basques were found to be high, ranging from 0.662 to 0.882, and none of the STR loci significantly deviated from Hardy-Weinberg equilibrium. Based on the comparative population data set, the average G(ST) score is 0.7%, indicating a low degree of genetic differentiation. However, neighbor-joining trees and multidimensional-scaling plots of D(A) genetic distances indicate that the Vizcayan Basques are an outlier relative to both neighboring Iberians and North African populations.

Applications of pooled DNA samples to the assessment of population affinities: short tandem repeats.

Pooled DNA samples have been used in association studies of Mendelian disease genes. This method involves combining equal quantities of DNA from patients and control subjects into separate pools and comparing the pools for distributions of genetic markers. In this study identical quantities of DNA from 300 individuals representing 6 populations were pooled and amplified for 296 loci using the touchdown polymerase chain reaction (PCR) method. The purpose of this study is to test the efficacy of pooled DNA markers in the reconstruction of the genetic structure of human populations. The populations sampled included Chuvash, Buryats, Kizhi, Native Americans, South Africans, and New York City whites. To test the accuracy of the allele-frequency distributions, we genotyped the Buryats and New York samples individually for six microsatellite markers and compared their frequencies to the allele frequencies derived from the electropherogram peak heights for the pooled DNA, producing a correlation of 0.9811 with a variance of less than 0.04. Two-dimensional scaling of genetic distances among the six populations produced clusters that reflected known historical relationships. A distance matrix was created using all 296 loci, and matrices based on individual chromosomes were correlated against the total matrix. As expected, the largest chromosomes had the highest correlations with the total matrix, whereas one of the smallest chromosomes, chromosome 22, had the lowest correlation and differed most from the combined STR distance matrix.