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


Authors: Casanova, M.; Leroy, P.; Boucekkine, C.; Weissenuach, J.; Bishop, C.; Fellous, M.; Purrello, M.; Fiori, G.; Siniscalco, M.
Article Title: A human Y-linked DNA polymorphism and its potential for estimating genetic and evolutionary distance
Abstract: 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.
Keywords: mammalia; heredity; evolution; genetic engineering; base sequence; sequence homology, nucleic acid; polymorphism, genetic; dna polymorphism; dna fragment; y chromosome; variation (genetics); pan troglodytes; humans; human; priority journal; dna restriction enzymes; genetic distance
Journal Title: Science
Volume: 230
Issue: 4732
ISSN: 0036-8075
Publisher: American Association for the Advancement of Science  
Date Published: 1985-12-20
Start Page: 1403
End Page: 1406
Language: English
DOI: 10.1126/science.2999986
PUBMED: 2999986
PROVIDER: scopus
DOI/URL:
Notes: Article -- Export Date: 26 October 2021 -- Source: Scopus
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