Appendix 08. Linkage analysis of the ABO genes


Renwick and Lawler observed the association of the ABO blood groups with the Nail-Patella syndrome in 1955. This disease is characterized by several typical abnormalities of the arms and legs as well as kidney disease and glaucoma, and is inherited in an autosomal dominant manner. The close linkage of the ABO blood group and the disease indicated that the ABO gene locus and the genetic loci to cause the syndrome are located in the same chromosomal region. Ferguson-Smith and colleagues later mapped the ABO gene locus to 9q34, using somatic cell hybrids.