[The human genome--chromosome 16]. 1995

R Brdicka
Ustav hematologie a krevnĂ­ transfuze, Praha.

Haemoglobinopathies and thalassaemia caused by qualitative and quantitative disorders of the function of the alpha-chain of haemoglobin are associated with chromosome 16 on the short arms of which two of its loci are placed localized mapped. The majority of the human population has four active alpha-chain genes. Reduction of their number to two or less leads to increasing symptoms of their insufficiency manifested as alpha-thalassaemia--complete loss being lethal. On the 16th chromosome is the cause of the dominantly hereditary disease--polycytosis of the kidney so far inaccurately defined at the gene level. The author mentions also the loci of the cholesterylester transfer protein--which participates in the responsibility for hyperlipoproteinaemia and sclerotic changes and loci of haptoglobin chains--one of the serum proteins oldest as regards knowledge of its electrophoretic polymorphism.

UI MeSH Term Description Entries
D002874 Chromosome Mapping Any method used for determining the location of and relative distances between genes on a chromosome. Gene Mapping,Linkage Mapping,Genome Mapping,Chromosome Mappings,Gene Mappings,Genome Mappings,Linkage Mappings,Mapping, Chromosome,Mapping, Gene,Mapping, Genome,Mapping, Linkage,Mappings, Chromosome,Mappings, Gene,Mappings, Genome,Mappings, Linkage
D002885 Chromosomes, Human, Pair 16 A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. Chromosome 16
D005826 Genetics, Medical A subdiscipline of human genetics which entails the reliable prediction of certain human disorders as a function of the lineage and/or genetic makeup of an individual or of any two parents or potential parents. Medical Genetics
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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