Abstract
Gene frequency data, consisting of six red cell antigen loci, nine electrophoretic systems, and HLA-A and -B are reported for the Utah Mormon population. These are compared statistically to gene frequencies from at U.S. population, 13 European populations, and seven populations from three religious isolates. The Mormon gene frequencies are similar to those of their northern European ancestors. This is explained by the large founding size of the Mormon population and high rates of gene flow. In contrast, the religious isolates (Amish, Hutterites, and Mennonites) show marked divergence from their ancestral populations and each other, due to isolation and random genetic drift. The HLA loci and electrophoretic loci presented here yield sets of genetic distances that are highly correlated (r = .734) and that both correspond closely to the actual geographic distances among the European populations. The genetic distances based on red cell antigen loci correspond less closely to the geographic distances and exhibit lower correlations with both the HLA and electrophoretic loci (r = .524 and r = .565, respectively).
Full text
PDF





















Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Barker D., Schafer M., White R. Restriction sites containing CpG show a higher frequency of polymorphism in human DNA. Cell. 1984 Jan;36(1):131–138. doi: 10.1016/0092-8674(84)90081-3. [DOI] [PubMed] [Google Scholar]
- Berg K., Eriksson A. W. Genetic marker systems in arctic populations. VI. Polymorphism of C3 in Icelanders. Hum Hered. 1973;23(3):247–250. doi: 10.1159/000152581. [DOI] [PubMed] [Google Scholar]
- Bjarnason O., Bjarnason V., Edwards J. H., Fridriksson S., Magnusson M., Mourant A. E., Tills D. The blood groups of Icelanders. Ann Hum Genet. 1973 Apr;36(4):425–458. doi: 10.1111/j.1469-1809.1973.tb00606.x. [DOI] [PubMed] [Google Scholar]
- Botstein D., White R. L., Skolnick M., Davis R. W. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet. 1980 May;32(3):314–331. [PMC free article] [PubMed] [Google Scholar]
- Broman P., Grundin R., Lins P. E. The red cell acid phosphatase polymorphism in Sweden. Gene frequencies and application to disputed paternity. Acta Genet Med Gemellol (Roma) 1971 Jan;20(1):77–81. doi: 10.1017/s1120962300011732. [DOI] [PubMed] [Google Scholar]
- Brönnestam R. Studies on the C3 polymorphism. Relationship between phenotype and quantitative immunochemical measurements. Hum Hered. 1973;23(2):128–134. doi: 10.1159/000152564. [DOI] [PubMed] [Google Scholar]
- Caeiro B., Rey D., Varela T. A. Esterase D polymorphism in Galicia (North-West of Spain). Hum Hered. 1982;32(2):147–148. doi: 10.1159/000153278. [DOI] [PubMed] [Google Scholar]
- Campillo F. L., Gallardo L. E., Senra A. Distribution of the Kell blood groups in the Spanish population. Hum Hered. 1973;23(5):499–500. doi: 10.1159/000152616. [DOI] [PubMed] [Google Scholar]
- Carracedo A., Concheiro L. PGM1 subtypes in Galicia (NW Spain). Hum Hered. 1982;32(2):133–135. doi: 10.1159/000153273. [DOI] [PubMed] [Google Scholar]
- Cartwright R. A., Bethel I. L., Hargreaves H., Izatt M., Jolly J., Mitchell R. J., Sawhney K. S., Smith M., Sunderland E., Teasdale D. The red blood cell esterase D polymorphism in Europe and Asia. Hum Genet. 1976 Jul 27;33(2):161–166. doi: 10.1007/BF00281890. [DOI] [PubMed] [Google Scholar]
- Dadone M. M., Kushner J. P., Edwards C. Q., Bishop D. T., Skolnick M. H. Hereditary hemochromatosis. Analysis of laboratory expression of the disease by genotype in 18 pedigrees. Am J Clin Pathol. 1982 Aug;78(2):196–207. doi: 10.1093/ajcp/78.2.196. [DOI] [PubMed] [Google Scholar]
- Dissing J., Sorensen H. Studies on C'3 polymorphism in Denmark. Hum Hered. 1971;21(3):272–277. doi: 10.1159/000152413. [DOI] [PubMed] [Google Scholar]
- EATON J. W., MAYER A. J. The social biology of very high fertility among the Hutterites; the demography of a unique population. Hum Biol. 1953 Sep;25(3):206–264. [PubMed] [Google Scholar]
- Eriksen B. Human red cell glyoxalase I polymorphism in Denmark and its application to paternity cases. Hum Hered. 1979;29(5):265–271. doi: 10.1159/000153056. [DOI] [PubMed] [Google Scholar]
- Fraser G. R., Volkers W. S., Bernini L. F., van Loghem E., Meera Khan P., Nijenhuis L. E. Gene frequencies in a Dutch population. Hum Hered. 1974;24(5-6):435–448. doi: 10.1159/000152680. [DOI] [PubMed] [Google Scholar]
- GARDNER E. J. A genetic and clinical study of intestinal polyposis, a predisposing factor for carcinoma of the colon and rectum. Am J Hum Genet. 1951 Jun;3(2):167–176. [PMC free article] [PubMed] [Google Scholar]
- GILBERT R. E., MULAIK D. D., STEPHENS F. E., WOOLF C. M. An investigation of the frequency of consanguineous marriages among the mormons and their relatives in the United States. Am J Hum Genet. 1956 Dec;8(4):236–252. [PMC free article] [PubMed] [Google Scholar]
- Goedde H. W., Benkmann H. G., Agarwal D. P., Hirth L. Further investigations on the inherited polymorphism of the third component of complement (beta1C-beta1A-globulin). Hum Hered. 1972;22(5):488–495. doi: 10.1159/000152528. [DOI] [PubMed] [Google Scholar]
- Goedde H. W., Hirth L., Benkmann H. G., Pellicer A., Pellicer T., Stahn M., Singh S. Population genetic studies of red cell enzyme polymorphisms in four Spansih populations. Hum Hered. 1972;22(5):552–560. doi: 10.1159/000152537. [DOI] [PubMed] [Google Scholar]
- Goedde H. W., Hirth L., Benkmann H. G., Pellicer A., Pellicer T., Stahn M., Singh S. Population genetic studies of serum protein polymorphisms in four Spanish populations. II. Hum Hered. 1973;23(2):135–146. doi: 10.1159/000152565. [DOI] [PubMed] [Google Scholar]
- Hastings D. W., Reynolds C. H., Canning R. R. Mormonism and birth planning: the discrepancy between church authorities' teachings and lay attitudes. Popul Stud (Camb) 1972 Mar;26(1):19–28. [PubMed] [Google Scholar]
- Jorde L. B., Fineman R. M., Martin R. A. Epidemiology of neural tube defects in Utah, 1940-1979. Am J Epidemiol. 1984 Apr;119(4):487–495. doi: 10.1093/oxfordjournals.aje.a113765. [DOI] [PubMed] [Google Scholar]
- Jorde L. B. The genetic structure of the Utah Mormons: migration analysis. Hum Biol. 1982 Sep;54(3):583–597. [PubMed] [Google Scholar]
- Karlin S., Kenett R., Bonné-Tamir B. Analysis of biochemical genetic data on Jewish populations: II. Results and interpretations of heterogeneity indices and distance measures with respect to standards. Am J Hum Genet. 1979 May;31(3):341–365. [PMC free article] [PubMed] [Google Scholar]
- Karlsson S., Arnason A., Jensson O. GLO polymorphism in Iceland. Hum Hered. 1980;30(6):383–385. doi: 10.1159/000153163. [DOI] [PubMed] [Google Scholar]
- Karlsson S., Arnason A., Thordarson G., Olaisen B. Frequency of Gc alleles and a variant Gc allele in Iceland. Hum Hered. 1980;30(2):119–121. doi: 10.1159/000153113. [DOI] [PubMed] [Google Scholar]
- Kravitz K., Skolnick M., Cannings C., Carmelli D., Baty B., Amos B., Johnson A., Mendell N., Edwards C., Cartwright G. Genetic linkage between hereditary hemochromatosis and HLA. Am J Hum Genet. 1979 Sep;31(5):601–619. [PMC free article] [PubMed] [Google Scholar]
- Kühnl P., Schwabenland R., Spielmann W. Investigations on the polymorphism of glyoxalase I (EC 4.4.1.5) in the population of Hessen, Germany. Hum Genet. 1977 Aug 31;38(1):99–106. doi: 10.1007/BF00295812. [DOI] [PubMed] [Google Scholar]
- Kühnl P., Spielmann W. Investigations on the PGMa1 polymorphism (phosphoglucomutase--EC 2.7.5.1) by isoelectric focusing. Hum Genet. 1978 Jul 12;43(1):57–67. doi: 10.1007/BF00396479. [DOI] [PubMed] [Google Scholar]
- Kühnl P., Spielmann W. Untersuchungen zum C'3-Polymorphismus ( 1c -globulin). Genfrequenzen und Familienuntersuchungen an hessichen Blutspendern und einer Bantupopulation. Humangenetik. 1972;15(1):7–13. doi: 10.1007/BF00273425. [DOI] [PubMed] [Google Scholar]
- Lasker G. W. A coefficient of relationship by isonymy: a method for estimating the genetic relationship between populations. Hum Biol. 1977 Sep;49(3):489–493. [PubMed] [Google Scholar]
- Lopez-Larrea C., Bootello A., Arnaiz-Villena A. Linkage of GLO with HLA in a sample of the Spanish population. Hum Genet. 1981;57(3):317–320. doi: 10.1007/BF00278952. [DOI] [PubMed] [Google Scholar]
- Lyon J. L., Gardner J. W., West D. W. Cancer incidence in Mormons and non-Mormons in Utah during 1967--75. J Natl Cancer Inst. 1980 Nov;65(5):1055–1061. [PubMed] [Google Scholar]
- Lyon J. L., Wetzler H. P., Gardner J. W., Klauber M. R., Williams R. R. Cardiovascular mortality in Mormons and non-Mormons in Utah, 1969--1971. Am J Epidemiol. 1978 Nov;108(5):357–366. doi: 10.1093/oxfordjournals.aje.a112632. [DOI] [PubMed] [Google Scholar]
- MCKUSICK V. A., HOSTETLER J. A., EGELAND J. A., ELDRIDGE R. THE DISTRIBUTION OF CERTAIN GENES IN THE OLD ORDER AMISH. Cold Spring Harb Symp Quant Biol. 1964;29:99–114. doi: 10.1101/sqb.1964.029.01.015. [DOI] [PubMed] [Google Scholar]
- Martin A. O. The founder effect in a human isolate: evolutionary implications. Am J Phys Anthropol. 1970 May;32(3):351–367. doi: 10.1002/ajpa.1330320305. [DOI] [PubMed] [Google Scholar]
- McLellan T. Electrophoresis buffers for polyacrylamide gels at various pH. Anal Biochem. 1982 Oct;126(1):94–99. doi: 10.1016/0003-2697(82)90113-0. [DOI] [PubMed] [Google Scholar]
- McLellan T. Two previously undetected variants of glutamic-pyruvic transaminase found by acidic polyacrylamide gel electrophoresis. Am J Hum Genet. 1982 Jul;34(4):623–629. [PMC free article] [PubMed] [Google Scholar]
- Meera Khan P., Doppert B. A. Rapid detection of glyoxalase I (GLO) on cellulose acetate gel and the distribution of GLO variants in a Dutch population. Hum Genet. 1976 Sep 10;34(1):53–56. doi: 10.1007/BF00284434. [DOI] [PubMed] [Google Scholar]
- Menozzi P., Piazza A., Cavalli-Sforza L. Synthetic maps of human gene frequencies in Europeans. Science. 1978 Sep 1;201(4358):786–792. doi: 10.1126/science.356262. [DOI] [PubMed] [Google Scholar]
- Morgan K., Holmes T. M., Schlaut J., Marchuk L., Kovithavongs T., Pazderka F., Dossetor J. B. Genetic variability of HLA in the Dariusleut Hutterites. A comparative genetic analysis of the Hutterities, the Amish, and other selected Caucasian populations. Am J Hum Genet. 1980 Mar;32(2):246–257. [PMC free article] [PubMed] [Google Scholar]
- Morton N. E., Yasuda N., Miki C., Yee S. Population structure of the ABO blood groups in Switzerland. Am J Hum Genet. 1968 Sep;20(5):420–429. [PMC free article] [PubMed] [Google Scholar]
- Morton N. E., Yee S., Harris D. E., Lew R. Bioassay of kinship. Theor Popul Biol. 1971 Dec;2(4):507–524. doi: 10.1016/0040-5809(71)90038-4. [DOI] [PubMed] [Google Scholar]
- Olaisen B., Siverts A., Jonassen R., Mevåg B., Gedde-Dahl T. The ESD polymorphism: further studies of the ESD2 and ESD5 allele products. Hum Genet. 1981;57(4):351–353. doi: 10.1007/BF00281682. [DOI] [PubMed] [Google Scholar]
- Olaisen B., Teisberg P., Jonassen R. GLO polymorphism in Norway. Hum Hered. 1976;26(6):454–457. doi: 10.1159/000152840. [DOI] [PubMed] [Google Scholar]
- Olsson K. S., Ritter B., Rosén U., Heedman P. A., Staugård F. Prevalence of iron overload in central Sweden. Acta Med Scand. 1983;213(2):145–150. doi: 10.1111/j.0954-6820.1983.tb03706.x. [DOI] [PubMed] [Google Scholar]
- Parr C. W., Bagster I. A., Welch S. G. Human red cell glyoxalase I polymorphism. Biochem Genet. 1977 Feb;15(1-2):109–113. doi: 10.1007/BF00484553. [DOI] [PubMed] [Google Scholar]
- Pflugshaupt R., Scherz R., Bütler R. Human red glyoxalase I polymorphism in the Swiss population: phenotype frequencies and a simplified technique. Hum Hered. 1978;28(3):235–237. doi: 10.1159/000152962. [DOI] [PubMed] [Google Scholar]
- Pflugshaupt R., Scherz R., Bütler R. Polymorphism of human red cell adenosine deaminase, esterase d, glutamate pyruvate transaminase and galactose-1-phosphate-uridyltransferase in the swiss population. Hum Hered. 1976;26(3):161–166. doi: 10.1159/000152799. [DOI] [PubMed] [Google Scholar]
- Piazza A., Menozzi P., Cavalli-Sforza L. L. Synthetic gene frequency maps of man and selective effects of climate. Proc Natl Acad Sci U S A. 1981 Apr;78(4):2638–2642. doi: 10.1073/pnas.78.4.2638. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Rittner C., Müller G. Esterase D: some population and formal genetical data. Hum Hered. 1975;25(2):152–155. doi: 10.1159/000152720. [DOI] [PubMed] [Google Scholar]
- Ryder L. P., Andersen E., Svejgaard A. An HLA map of Europe. Hum Hered. 1978;28(3):171–200. doi: 10.1159/000152958. [DOI] [PubMed] [Google Scholar]
- Ryman N., Chakraborty R., Nei M. Differences in the relative distribution of human gene diversity between electrophoretic and red and white cell antigen loci. Hum Hered. 1983;33(2):93–102. doi: 10.1159/000153357. [DOI] [PubMed] [Google Scholar]
- Salmon D., Yvart J. Fréquences géniques de 17 systèmes de polymorphisme. Etude sur un échantillon de sujets vivant dans la Région Parisienne. Rev Fr Transfus. 1974 Dec;17(4):295–304. doi: 10.1016/s0035-2977(74)80042-8. [DOI] [PubMed] [Google Scholar]
- Scherz R., Pflugshaupt R., Bütler R. Isoelectric focusing of human red cell phosphoglucomutase (PGM1): phenotype distribution in the Swiss population - rare phenotypes. Hum Hered. 1981;31(3):187–190. doi: 10.1159/000153204. [DOI] [PubMed] [Google Scholar]
- Seger J. Fréquences dans la population parisienne des gènes correspondant au polymorphisme de l'adénosine déaminase, de la 6-phosphogluconate déshydrogénase et de l'estérase D. Rev Fr Transfus Immunohematol. 1977 Dec;20(4):575–583. doi: 10.1016/s0338-4535(77)80062-7. [DOI] [PubMed] [Google Scholar]
- Seger J., Salmon D. Fréquences des phénotypes de la s.G.P.T. et de la fraction C'3 du complément to dans la population parisienne. Rev Fr Transfus Immunohematol. 1977 Jun;20(2):331–336. doi: 10.1016/s0338-4535(77)80098-6. [DOI] [PubMed] [Google Scholar]
- Simon M., Bourel M., Genetet B., Fauchet R. Idiopathic hemochromatosis. Demonstration of recessive transmission and early detection by family HLA typing. N Engl J Med. 1977 Nov 10;297(19):1017–1021. doi: 10.1056/NEJM197711102971901. [DOI] [PubMed] [Google Scholar]
- Skolnick M. H., Willard H. F., Menlove L. A. Report of the Committee on Human Gene Mapping by Recombinant DNA Techniques. Cytogenet Cell Genet. 1984;37(1-4):210–273. doi: 10.1159/000132011. [DOI] [PubMed] [Google Scholar]
- Skolnick M., Bean L., May D., Arbon V., De Nevers K., Cartwright P. Mormon demographic history I. Nuptiality and fertility of once-married couples. Popul Stud (Camb) 1978 Mar;32(1):5–19. [PubMed] [Google Scholar]
- Sorensen S. A., Fenger K. Gene frequencies and linkage data on EsD in man. Hum Hered. 1976;26(2):90–94. doi: 10.1159/000152787. [DOI] [PubMed] [Google Scholar]
- Spicer J. C., Gustavus S. O. Mormon fertility through half a century: another test of the Americanization hypothesis. Soc Biol. 1974 Spring;21(1):70–76. doi: 10.1080/19485565.1974.9988090. [DOI] [PubMed] [Google Scholar]
- Svensson M., Wetterling G. Identification of PGM1 (phosphoglucomutase EC 2.7.5.1) by isoelectric focusing in a Swedish population. Hum Hered. 1982;32(5):357–361. doi: 10.1159/000153322. [DOI] [PubMed] [Google Scholar]
- Teisberg P. The distribution of C 3 types in Norway. Hum Hered. 1971;21(2):154–161. doi: 10.1159/000152395. [DOI] [PubMed] [Google Scholar]
- Tills D., Warlow A., Kopeć A. C., Fridriksson S., Mourant A. E. The blood groups and other hereditary blood factors of the Icelanders. Ann Hum Biol. 1982 Nov-Dec;9(6):507–520. doi: 10.1080/03014468200006041. [DOI] [PubMed] [Google Scholar]
- Vergnes H., Meyer S., Weil D., Goudemand J., Brevière D., Sevin J., Constans J. Erythrocyte glyoxalase I and esterase D polymorphisms in four French populations. Hum Hered. 1980;30(4):232–236. doi: 10.1159/000153134. [DOI] [PubMed] [Google Scholar]
- Virtaranta-Knowles K., Nevanlinna H. R. Red cell glyoxalase I polymorphism in the Finnish population. Hum Hered. 1982;32(4):285–288. doi: 10.1159/000153308. [DOI] [PubMed] [Google Scholar]
- Weitkamp L. R. Linkage of GLO with HLA and Bf. Effect of population and sex on recombination frequency. Tissue Antigens. 1976 May;7(5):273–279. doi: 10.1111/j.1399-0039.1976.tb01068.x. [DOI] [PubMed] [Google Scholar]
