Segregation of ABO, AK₁ and ACON_S in families with abnormalities of chromosome 9

Abstract

Some families with abnormalities of chromosome 9 have been combined with others from the literature to show that AK1 and ABO must lie near the end of that chromosome. Current evidence suggests that both lie in band 9q34. MNSs, GPT and Gc can be excluded from chromosome 9.

Assignment of ABO locus to 9q31.3→qter by study of a family in which an intrachromosomal shift involving chromosome 9 is segregating

“…The assignment of the ABO locus to the distal 9q was first established by the linkage study of AK1 locus (Robson et al, 1977), which was mapped to 9q34 by studies of somatic cell hybridization (Westerveld et al, 1976) and gene dosage effects (Ferguson-Smith and Aitken, 1978). Cook et al (1978), studying the segregation of ABO and AK in families with various abnormalities of chromosome 9, demonstrated that these loci have to be near the end of the long arm of chromosome 9. Two other loci, ALDA (aminolevylinate dehydratase) and ORM, have been found to be linked with ABO or AK1 (Eiberg et al, 1981;Eiberg et al, 1983), and on the basis of the lod scores the gene order, ABO-AK1-ALDA-ORM is suggested.…”

“…The determination of the locus for ABO blood group (ABO) on 9q34 has been founded on the linkage studies in families (Robson et al, 1977;Cook et al, 1978). The lack of the deletion mapping for ABO is due to the unavailability of a patient with monosomy for the distal portion of the long arm of chromosome 9 with an informative genotype of ABO.…”

Report of the committee on the genetic constitution of chromosome 9

“…Lods for ABO:9qh and AKp.9qh place the linkage group at least 20 cM from the centromere in the male (R obson et al, 1977). Probabilities estimated from the segregation of ABO and AKi in families with chromosome 9 markers and abnormalities eliminate the linkage group from all but the extreme ends of the chromosome (Cook et al, 1978), in agreement with the somatic cell assignment of A K t to 9q34. Evidence from quantitative studies on AKi in cases of partial duplication and deficiency of chromo some 9 refine the assignment to the proximal two-thirds of q34 (F erguson-Smith and A itken, 1977).…”

“…Evidence from quantitative studies on AKi in cases of partial duplication and deficiency of chromo some 9 refine the assignment to the proximal two-thirds of q34 (F erguson-Smith and A itken, 1977). The orientation of the ABO linkage group has not yet been determined, but various observations suggest that A BO may be the most distal locus (Cook et al, 1978).…”

Report of the committee on the genetic constitution of chromosomes 7, 8 and 9

“…Based upon the following estimated male § and z valuesj Eiberg et al (1983b) Further family data were presented by Lewis et al (1983) to support the firm but loose linkage between ABO and ORM established earlier (Falk et al, 1975;Muncie et al, 1979;Eiberg et al, 1982 and. There has been a weak suggestion that C6 is a marker on chromosome 9 (Hobart et al, 1977 ; see also Cook et al, 1978). Lewis et al (1984) have analysed 60 families with 262 children for AB0-C6 linkage and obtained positive lod scores both in males and females with a total of +1.33 and 33 cM.…”