Skip to main content
NCBI home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1992 Jan;50(1):107–125.

Y chromosome probe p49a detects complex PvuII haplotypes and many new TaqI haplotypes in southern African populations.

A Spurdle 1, T Jenkins 1
PMCID: PMC1682522  PMID: 1729883

Abstract

Y-specific 49a/TaqI haplotypes were determined for 831 individuals drawn from 21 different southern African populations. A total of 31 new haplotypes were observed, some of which contained new alleles or allelic variants. Duplication, in addition to CpG mutation, is implicated in the generation of certain allelic variants. Cluster analysis of genetic distances between the populations, calculated using the 49a/TaqI haplotype frequencies, revealed a basic split between African and non-African populations. Hybrid groups cluster with the caucasoid groups, indicating that male gene flow has occurred from the latter into the former. Clustering of the negroid and Khoisan groups is not what might have been expected from the known linguistic affinities. It is suggested that the 49a/TaqI haplotype analysis of these populations is not sufficiently sensitive to distinguish between many of the populations. The Y-specific 49a/PvuII polymorphism was studied in 127 individuals from southern African populations, and 17 polymorphic fragments ranging in size from 3.6 kb to greater than 48 kb were identified. A total of 53 PvuII haplotypes were observed, corresponding to only 30 TaqI haplotypes. There appears to be poor correlation between the two polymorphisms.

Full text

PDF
107

Images in this article

110Figure 2
on p.110
116Figure 4
on p.116

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. 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]
  2. Bishop C. E., Guellaen G., Geldwerth D., Voss R., Fellous M., Weissenbach J. Single-copy DNA sequences specific for the human Y chromosome. Nature. 1983 Jun 30;303(5920):831–832. doi: 10.1038/303831a0. [DOI] [PubMed] [Google Scholar]
  3. Breuil S., Hallé L., Ruffié J., Lucotte G. Polymorphisme d'une sonde Y-spécifique nommée p49 chez les Papous Baruyas de Nouvelle-Guinée. Ann Genet. 1987;30(4):209–212. [PubMed] [Google Scholar]
  4. Casanova M., Leroy P., Boucekkine C., Weissenbach J., Bishop C., Fellous M., Purrello M., Fiori G., Siniscalco M. A human Y-linked DNA polymorphism and its potential for estimating genetic and evolutionary distance. Science. 1985 Dec 20;230(4732):1403–1406. doi: 10.1126/science.2999986. [DOI] [PubMed] [Google Scholar]
  5. Cavalli-Sforza L. L., Kidd J. R., Kidd K. K., Bucci C., Bowcock A. M., Hewlett B. S., Freidlaender J. S. DNA markers and genetic variation in the human species. Cold Spring Harb Symp Quant Biol. 1986;51(Pt 1):411–417. doi: 10.1101/sqb.1986.051.01.049. [DOI] [PubMed] [Google Scholar]
  6. Cavalli-Sforza L. L., Piazza A., Menozzi P., Mountain J. Reconstruction of human evolution: bringing together genetic, archaeological, and linguistic data. Proc Natl Acad Sci U S A. 1988 Aug;85(16):6002–6006. doi: 10.1073/pnas.85.16.6002. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Feinberg A. P., Vogelstein B. "A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum. Anal Biochem. 1984 Feb;137(1):266–267. doi: 10.1016/0003-2697(84)90381-6. [DOI] [PubMed] [Google Scholar]
  8. Guérin P., Rouger P., Lucotte G. A new TaqI BO variant detected with the p49 probe on the human Y chromosome. Nucleic Acids Res. 1988 Aug 11;16(15):7759–7759. doi: 10.1093/nar/16.15.7759. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Harding R. M., Sokal R. R. Classification of the European language families by genetic distance. Proc Natl Acad Sci U S A. 1988 Dec;85(23):9370–9372. doi: 10.1073/pnas.85.23.9370. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Jakubiczka S., Arnemann J., Cooke H. J., Krawczak M., Schmidtke J. A search for restriction fragment length polymorphism on the human Y chromosome. Hum Genet. 1989 Dec;84(1):86–88. doi: 10.1007/BF00210680. [DOI] [PubMed] [Google Scholar]
  11. Jenkins T., Zoutendyk A., Steinberg A. G. Gammaglobulin groups (Gm and Inv) of various Southern African populations. Am J Phys Anthropol. 1970 Mar;32(2):197–218. doi: 10.1002/ajpa.1330320206. [DOI] [PubMed] [Google Scholar]
  12. Lucotte G., Guérin P., Hallé L., Loirat F., Hazout S. Y chromosome DNA polymorphisms in two African populations. Am J Hum Genet. 1989 Jul;45(1):16–20. [PMC free article] [PubMed] [Google Scholar]
  13. Lucotte G., Sriniva K. R., Loirat F., Hazout S., Ruffié J. The p49/TaqI Y-specific polymorphisms in three groups of Indians. Gene Geogr. 1990 Apr;4(1):21–27. [PubMed] [Google Scholar]
  14. Maeda N., Smithies O. The evolution of multigene families: human haptoglobin genes. Annu Rev Genet. 1986;20:81–108. doi: 10.1146/annurev.ge.20.120186.000501. [DOI] [PubMed] [Google Scholar]
  15. Ramsay M., Jenkins T. Alpha-globin gene cluster haplotypes in the Kalahari San and southern African Bantu-speaking blacks. Am J Hum Genet. 1988 Oct;43(4):527–533. [PMC free article] [PubMed] [Google Scholar]
  16. Sykes B. C. DNA in heritable disease. Lancet. 1983 Oct 1;2(8353):787–788. doi: 10.1016/s0140-6736(83)92314-0. [DOI] [PubMed] [Google Scholar]
  17. Torroni A., Semino O., Scozzari R., Sirugo G., Spedini G., Abbas N., Fellous M., Santachiara Benerecetti A. S. Y chromosome DNA polymorphisms in human populations: differences between Caucasoids and Africans detected by 49a and 49f probes. Ann Hum Genet. 1990 Oct;54(Pt 4):287–296. doi: 10.1111/j.1469-1809.1990.tb00384.x. [DOI] [PubMed] [Google Scholar]
  18. Wainscoat J. S., Hill A. V., Boyce A. L., Flint J., Hernandez M., Thein S. L., Old J. M., Lynch J. R., Falusi A. G., Weatherall D. J. Evolutionary relationships of human populations from an analysis of nuclear DNA polymorphisms. Nature. 1986 Feb 6;319(6053):491–493. doi: 10.1038/319491a0. [DOI] [PubMed] [Google Scholar]
  19. Wolff R. K., Nakamura Y., White R. Molecular characterization of a spontaneously generated new allele at a VNTR locus: no exchange of flanking DNA sequence. Genomics. 1988 Nov;3(4):347–351. doi: 10.1016/0888-7543(88)90126-7. [DOI] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES