title: Human genetic variation in the Sierra de Gredos mountain (central Spain): study of several polymorphisms.
abstract: The variation in the third component of human complement (C3) and orosomucoid (ORM1) serum proteins, and 6-phosphogluconate dehydrogenase (6PGD), adenosine deaminase (ADA), esterase D (ESD), and acid phosphatase (ACP1) red cell enzymes was examined in two samples from autochthonous populations living on either side of the Sierra de Gredos range in Central Spain. These results support only a moderate differentiation between Gredos subpopulations, which is discussed in relation to other Iberian Peninsula groups. Allele frequencies in Gredos show a remarkable heterogeneity as contrasted with other Iberian populations for most of the markers examined; relatively high C3*S, ORM1*F, ADA*1, ESD*2, and ACP1*C gene frequencies are characteristics of Gredos samples. This differentiation was more marked for the Northern Gredos population and could be related to the geographical peculiarities of this region.
authors.affiliation: Facultad de Biologia, Universidad de Barcelona.
authors.forename: P
authors.initials: P
authors.lastname: Moral
authors.forename: T
authors.initials: T
authors.lastname: Sandiumenge
authors.forename: S
authors.initials: S
authors.lastname: Vives
authors.forename: N
authors.initials: N
authors.lastname: Lutken
authors.forename: F
authors.initials: F
authors.lastname: Ortega
authors.forename: M D
authors.initials: MD
authors.lastname: Marrodan
authors.forename: V
authors.initials: V
authors.lastname: Fuster
mesh_terms: D000135:Acid Phosphatase / Q000097:blood / Q000235:genetics; D000243:Adenosine Deaminase / Q000097:blood / Q000235:genetics; D000328:Adult; D000483:Alleles; D001798:Blood Proteins / Q000235:genetics*; D043182:Carboxylesterase; D002265:Carboxylic Ester Hydrolases / Q000097:blood / Q000235:genetics; D003176:Complement C3 / Q000235:genetics; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D005843:Geography; D006801:Humans; D008297:Male; D009961:Orosomucoid / Q000235:genetics; D010734:Phosphogluconate Dehydrogenase / Q000097:blood / Q000235:genetics; D011110:Polymorphism, Genetic; D013030:Spain
chemical_list: D001798:Blood Proteins; D003176:Complement C3; D009961:Orosomucoid; D010734:Phosphogluconate Dehydrogenase; D002265:Carboxylic Ester Hydrolases; D043182:Carboxylesterase; C020118:ESD protein, human; D000135:Acid Phosphatase; D000243:Adenosine Deaminase