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Science 20 December 1985:
Vol. 230. no. 4732, pp. 1403 - 1406
DOI: 10.1126/science.2999986
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Articles

Science, Vol 230, Issue 4732, 1403-1406
Copyright © 1985 by American Association for the Advancement of Science

articles

A human Y-linked DNA polymorphism and its potential for estimating genetic and evolutionary distance

M Casanova, P Leroy, C Boucekkine, J Weissenbach, C Bishop, M Fellous, M Purrello, G Fiori, and M Siniscalco

A human DNA sequence (p12f2), derived from a partial Y-chromosome genomic library and showing homology with the X and Y chromosomes and with an undetermined number of autosomes, detected two Y-specific restriction fragment length variants on male DNA that had been digested with Taq I and Eco RI. These variants may have been generated through a deletion-insertion mechanism and their pattern of holoandric transmission indicates that they represent a two-allele Y-linked polymorphism (RFLP). By means of DNA from patients with inborn deletions in chromosome Y, this polymorphic DNA site was mapped to the interval Yq11.1-Yq11.22. The frequency of the rarest allele was about 35 percent in Algerian and Sardinian human males, whereas it was only 4 percent among Northern Europeans. The p12f2 probe also detected Y-specific DNA fragments in the gorilla and chimpanzee. In view of the monosomy of the Y chromosome in mammalian species, Y-linked RFLP's may prove to be more useful than autosomal or X-linked markers in estimating genetic distances within and between species.


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