title: A human Y-linked DNA polymorphism and its potential for estimating genetic and evolutionary distance.
abstract: 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.
mesh_terms: D001483:Base Sequence; D005075:Biological Evolution; D004262:DNA Restriction Enzymes; D014644:Genetic Variation; D006801:Humans; D011110:Polymorphism, Genetic; D012689:Sequence Homology, Nucleic Acid; D014998:Y Chromosome
chemical_list: D004262:DNA Restriction Enzymes