Infantile hypophosphatasia--linkage with the RH locus.
Linkage analysis of six nuclear families with infantile hypophosphatasia which were informative for the Rh blood group locus was performed. The maximum combined lod score was 4.76 with the recombinant distance (theta) of 0.04. These preliminary data provide evidence for linkage between the genes for infantile hypophosphatasia and the Rh blood group and provisionally assign the gene locus for infantile hypophosphatasia (designated HOPS) to chromosome 1p.
D000328:Adult; D000469:Alkaline Phosphatase / Q000097:blood; D004983:Ethanolamines / Q000652:urine; D005260:Female; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D007014:Hypophosphatasia / Q000235:genetics* / Q000378:metabolism; D007223:Infant; D008297:Male; D012204:Rh-Hr Blood-Group System / Q000235:genetics*
D004983:Ethanolamines; D012204:Rh-Hr Blood-Group System; C005448:phosphorylethanolamine; D000469:Alkaline Phosphatase