Red cell polymorphisms in Down's syndrome. Gene frequencies and phenotype associations

Abstract

The phenotype frequencies of red cell phosphoglucomutase (PGT), acid phosphatase (ACP), adenylate kinase (AK), 6‐phosphogluconate dehydrogenase (PCD), adenosine deaminase (ADA), alanine aminotransferase (ALA), isocitric dehydrogenase (ICD) and glucose‐phosphate dehydrogenase (G‐6‐PD) and the ABO blood groups were investigated in a group of 256 subjects with Down's syndrome and 409 subjects with mental retardation but without chromosomal defects. The estimates and standard errors of the gene frequencies, deviations from the Hardy‐Weinberg law and between‐group comparisons by Haldane's log ratio test were determined. G‐tests were carried out between all systems to detect any phenotype association, and gene‐counting and subsequent G‐tests were performed to investigate possible gene associations. During these association tests, data presented elsewhere on haptoglobin (Hp) and group specific proteins (Gc) were included. No inter‐group differences could be detected, but positive associations between PGT and ACP were found in the Down's group and for Hp vs. ADA and Hp vs. ACP in the control group. A sex difference was found in the PGT phenotypes in the Down's subjects, principally in the age range 0–18 years, and an excess of type B in the ABO groups of the Down's subjects was observed. Three examples of rare variants were observed in the Down's subjects, one example of the PGT2 type 3:1, one subject with a G‐GPD type A and one subject with a variant PGI) phenotype not reported previously.

Hepatitis associated antigen and the ABO locus in Down's syndrome

“…The ABO blood group distribution, reported elsewhere, was compared with a number of similar surveys to be found in the literature (Rundle & Sudell 1973). The found frequencies were Type A, 104 subjects; type B, 32 subjects; type AB, 7 subjects; and type 0, 113 subjects (i.e.…”

Association of Serum and Red Cell Phenotypes and Australian Antigen in Down's Syndrome

“…Gc proteins were separated at room temperature by immunoelectrophoresis on micro-agar plates with diffusion against a specific antiserum. Full details of these methods are given in detail elsewhere (Rundle and Sudell, 1973;Rundle et al, 1974a).…”

“…In addition to the frequencies outlined in Table 1, one D.S. (HAA-) subject was found to AK 3 : 1 phenotype, and one was found to exhibit a PGD phenotype hitherto unreported (details of these two phenotypes have been shown elsewhere (Rundle and Sudell, 1973), and they have not been included in any subsequent analysis).…”

“…Elsewhere (Rundle, Atkin & Sudell, 1974a;Rundle and Sudell, 1973) we have reported the phenotype frequencies of a number of serum and red cell phenotype systems, but neglected to analyse the data with respect to the presence or absence of the hepatitis-associated antigen. This communication will present such an analysis.…”

The Syndrome of Coffin, Siris and Wegienka: Report of a Case

“…Methods used for serum and red cell phenotyping are described by Rimdle, Atkin and Sudell (1974) and Rundle (1973) was examined by the method of Goverdc and Veenkamp (1972).…”