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 : COL1A2 gene (alpha2 gene of type I collagen) at the haplotype level as a new valuable anthropogenetic marker: a study on Sardinians.: An article from: Human Biology
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Binding: Digital
Brand: The Gale Group
Format: HTML
Label: Wayne State University Press
Manufacturer: Wayne State University Press
Number Of Pages: 12
Publication Date: August 01, 1994
Publisher: Wayne State University Press
Release Date: July 28, 2005
Studio: Wayne State University Press




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This digital document is an article from Human Biology, published by Wayne State University Press on August 1, 1994. The length of the article is 3425 words. The page length shown above is based on a typical 300-word page. The article is delivered in HTML format and is available in your Amazon.com Digital Locker immediately after purchase. You can view it with any web browser.

From the author: Sardinians, a population with many distinct anthropogenetic features, has been studied for the COL1A1 and COL1A2 genes at the DNA level for two purposes: to look for new RFLPs (restriction fragment length polymorphisms) and to study the distribution of three known COL1A2 RFLPs (EcoRI, RsaI, MspI) at both the allele and the haplotype levels. None of the eleven enzyme-probe systems examined led to the discovery of a new polymorphism. The following frequency q was found for the less common allele of the three RFLPs: EcoRI, [q.sub.(+)] = 0.178 [+ or -] 0.031; Rsal, [q.sub.(-)] = 0.316 [+ or -] 0.038; MspI, [q.sub.(-)] = 0.046 [+ or -] 0.017. EcoRI turned out to be the most discriminant of the three polymorphisms because the frequency of the (+) allele in Sardinians was about half that estimated for a large homogeneous white sample (0.18 [+ or -] 0.03 vs. 0.30 [+ or -] 0.01). So far as the haplotype level is concerned, the sample is made up of triplets (parents and child). Therefore all the haplotype frequencies and delta values (degrees of disequilibrium, D) were obtained by direct counting of the unambiguously identified haplotypes rather than being based on their maximum-likelihood estimates. This together with their analytical and detailed presentation makes these data comparable with future findings, provided that the two data sets are presented in a comparable way. At this level the three RFLPs are efficient in distinguishing Sardinians from Calabrians (southern Italy) but not from the central Italian population. The present results, besides adding a further discriminative criterion between Sardinians and Italians (and whites on the whole), identify the complex COL1A2 locus as a valuable anthropogenetic marker.

Citation Details
Title: COL1A2 gene (alpha2 gene of type I collagen) at the haplotype level as a new valuable anthropogenetic marker: a study on Sardinians.
Author: G. Pepe
Publication: Human Biology (Refereed)
Date: August 1, 1994
Publisher: Wayne State University Press
Volume: v66 Issue: n4 Page: p613(11)

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