Original scientific paper
Anthropogenetical Analysis of Abnormal Human -globin Gene Cluster Arrangement on Chromosome 16*
D. Turčinov
R. Krishnamoorthy
B. Janićijević
I. Marković
M. Mustać
C. Lapoumeroulie
A. Chaventré
P. Rudan
Abstract
An earlier study of human globin gene polymorphism in two Adriatic islands of Olib and Silba showed an abnormal arrangement of _ -globin genes in two different individuals. The next step was to determine the degree of the kinship relationship between the two probands, one with a deleted and another with triplicated _ -globin gene on the island Silba, and to determine the stability of this disorder through generations. We reviewed the parish registers (Status Animarum) of the island of Silba, dating from the year 1527, and constructed family trees for the two probands. Restriction endonuclease mapping was performed to study the arrangement of the _ -globin genes in the offspring of our probands. A total of 183 ancestors completed the two family trees. The kinship relationship between them was established in the 5th, 6th, and 7th generation. The analysis of _ -globin genes in the offspring of our probands showed the triplicated _ -globin genes in two persons. We also found _ -globin gene triplication in other three relatives. We did not find any deleted _ -globin genes. We determined the kinship relationship between the two probands, one with deleted and the other with triplicated _ -globin genes. This finding enabled us to determine the stability of this gene disarrangement through generations. It also showed new possibilities in anthropogenetic research, by combining the analyses of parish registers with those of modern genetic methods, such as restriction endonuclease mapping.
Keywords
Hrčak ID:
10018
URI
Publication date:
16.12.2000.
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