ABSTRACT
A family is described in which knuckle pads, leukonychia, deafness, and keratosis palmoplantaris are present as a syndrome is several members. This is the second such family reported demonstrating that keratosis palmoplantaris is part of the syndrome. Inheritance pattern is probably autosomal dominant.
Subject(s)
Deafness , Keratoderma, Palmoplantar/genetics , Nails, Malformed , Skin Abnormalities , Toes , Adult , Child , Chromosome Aberrations , Chromosome Disorders , Female , Genes, Dominant , Hearing Disorders/genetics , Humans , Male , Middle Aged , SyndromeSubject(s)
Erythrocytes/metabolism , Porphyrins/blood , Bone Marrow/metabolism , Erythropoiesis , Female , Hematocrit , Hemoglobinometry , Humans , Iron/metabolism , Male , Transferrin/metabolismSubject(s)
Amino Acid Sequence , Biological Evolution , Hemoglobins/analysis , Mutation , Amino Acids/analysis , Animals , Blood Protein Electrophoresis , Chromatography , Chromatography, Paper , Cyanogen Bromide , Haplorhini , Hemoglobins/isolation & purification , Hominidae , Humans , Pan troglodytes , Peptides/analysis , Peptides/isolation & purification , Polymorphism, Genetic , Species Specificity , TrypsinABSTRACT
Hemoglobin A(2) (alpha(2)delta(2)) in New World primates represents about 1/160 to 1/16 of total hemoglobin and, by virtue of this low proportion, is presumed to be functionally unimportant. Nonetheless, A(2) exhibits genetic polymorphism by electrophoresis in three out of five genera, whereas the major component, hemoglobin A (alpha(2)beta(2)), is electrophoretically invariant. Moreover, in four genera, including man, the evolutionary accumulation of mutations has been greater in delta than in beta Such findings suggest that both polymorphism and evolutionary changes can accrue to an effectively functionless and thus selectively nearly netutral gene.
