Genetic origin of Hb D-Los Angeles [beta121(GH4)Glu-->Gln, GAA-->CAA] according to the beta-globin gene cluster haplotypes. 2007

Erol O Atalay, and Ayfer Atalay, and Emre Ustel, and Sanem Yildiz, and Onur Oztürk, and Aylin Köseler, and Anzel Bahadir
Department of Biophysics, Medical Faculty, Pamukkale University, Denizli, Turkey. eatalay@pau.edu.tr

Hb D-Los Angeles (also known as D-Punjab, D-North Carolina, D-Portugal, D-Chicago and Oak Ridge) is an abnormal hemoglobin (Hb) with an amino acid substitution of glutamine for glutamic acid at codon 121 of the beta-globin gene. The origin and spread of Hb D-Los Angeles is not known. This is due to lack of information and remains to be elucidated. According to published reports, the Hb D-Los Angeles mutation is mostly linked with Mediterranean haplotype I [+ - - - - + +]. Besides the Mediterranean haplotype, a novel haplotype was also reported from Thailand [- - + + - - + + +]. Here we report a new haplotype from Turkey [- + -- + + +] that has not been described before. These results suggest that the Hb D-Los Angeles mutation has at least three different genetic origins.

UI MeSH Term Description Entries
D011157 Population Dynamics The pattern of any process, or the interrelationship of phenomena, which affects growth or change within a population. Malthusianism,Neomalthusianism,Demographic Aging,Demographic Transition,Optimum Population,Population Decrease,Population Pressure,Population Replacement,Population Theory,Residential Mobility,Rural-Urban Migration,Stable Population,Stationary Population,Aging, Demographic,Decrease, Population,Decreases, Population,Demographic Transitions,Dynamics, Population,Migration, Rural-Urban,Migrations, Rural-Urban,Mobilities, Residential,Mobility, Residential,Optimum Populations,Population Decreases,Population Pressures,Population Replacements,Population Theories,Population, Optimum,Population, Stable,Population, Stationary,Populations, Optimum,Populations, Stable,Populations, Stationary,Pressure, Population,Pressures, Population,Replacement, Population,Replacements, Population,Residential Mobilities,Rural Urban Migration,Rural-Urban Migrations,Stable Populations,Stationary Populations,Theories, Population,Theory, Population,Transition, Demographic,Transitions, Demographic
D005810 Multigene Family A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed) Gene Clusters,Genes, Reiterated,Cluster, Gene,Clusters, Gene,Families, Multigene,Family, Multigene,Gene Cluster,Gene, Reiterated,Multigene Families,Reiterated Gene,Reiterated Genes
D005914 Globins A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure. Globin
D006239 Haplotypes The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. Haplotype
D006455 Hemoglobins, Abnormal Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains. Abnormal Hemoglobins
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014421 Turkey Country in Southeastern Europe and Southwestern Asia bordering the Black Sea, between Bulgaria and Georgia, and bordering the Aegean Sea and the Mediterranean Sea, between Greece and Syria. The capital is Ankara. Turkiye

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