A human DNA sequence (p12f2), derivedfrom 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-specafic 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.
CITATION STYLE
Casanova, M., Leroy, P., Boucekkine, C., Weissenuach, J., Bishop, C., Fellous, M., … Siniscalco, M. (1985). A human Y-linked DNA polymorphism and its potential for estimating genetic and evolutionary distance. Science, 230(4732), 1403–1406. https://doi.org/10.1126/science.2999986
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