Genetic approaches to the nosology of deafness.
Profound deafness of childhood is a heterogeneous entity. Perhaps 50% of cases owe their handicap to mendelian segregation of single genes. Various types of genetic methods, combined with clinical and statistical analyses, are described by means of which an initial approach can be made to the problem of the estimation of the number of different gene loci involved and of the prevalence of the various abnormal alleles, as well as of the definition of their modes of action.
D000483:Alleles; D003638:Deafness / Q000145:classification / Q000235:genetics*; D005260:Female; D005684:Gait; D005799:Genes, Dominant; D005808:Genes, Recessive; D006042:Goiter / Q000145:classification; D006801:Humans; D007057:Ichthyosis / Q000145:classification; D007911:Lentigo / Q000145:classification; D008297:Male; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000145:classification; D012730:Sex Chromosomes; D012872:Skin Diseases, Vesiculobullous / Q000145:classification; D013577:Syndrome; D014849:Waardenburg Syndrome / Q000145:classification