Disequilibrium of multiple DNA markers on the human Y chromosome

F. PERSICHETTP, P. BLASI, M. HAMMER, P. MALASPINA, C. JODICE, L. TERRENATO, A. NOVELLETTO

Research output: Contribution to journalArticle

44 Scopus citations

Abstract

We characterized four DNA polymorphisms on the Y chromosomes of 123 males from five Caucasian populations. Three markers on the male specific portion of the chromosome varied appreciably in frequency among the populations. When combined, these markers define a limited number of haplotypes compared with the maximum expected on the basis of random association. The associations found in the five groups are qualitatively similar and are thus considered to be relatively stable on an evolutionary time‐scale and possibly to predate the divergence of Caucasian populations. However, the haplotype frequencies varied markedly among populations, even between weakly isolated areas such as northern vs. southern Sardinia. This may indicate rapid progression towards fixation of alternative types of Y chromosomes. We also report data suggesting that the same associations no longer hold when examining a marker as close as 275 bp from the boundary of the pseudoautosomal region on the Y chromosome.

Original languageEnglish (US)
Pages (from-to)303-310
Number of pages8
JournalAnnals of Human Genetics
Volume56
Issue number4
DOIs
StatePublished - Oct 1992

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    PERSICHETTP, F., BLASI, P., HAMMER, M., MALASPINA, P., JODICE, C., TERRENATO, L., & NOVELLETTO, A. (1992). Disequilibrium of multiple DNA markers on the human Y chromosome. Annals of Human Genetics, 56(4), 303-310. https://doi.org/10.1111/j.1469-1809.1992.tb01157.x