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G L Daniels

Publications and source records attributed to G L Daniels.

13 recordsLinked to original sources
PubMed1992

A study on Lu-null families in South Wales.

Red cells of 75614 blood donors in South Wales were screened with anti-Lu(b) revealing 54 Lu(b-) donors of which 15 were also Lu(a-) giving a frequency of 0.0002 for the Lu(a-b-) phenotype in South Wales. The families of 11 Lu-null propositi were investigated to determine which of the three known genetic backgrounds, dominant, recessive or X-linked recessive, was responsible for their Lu-null phenotype. In 10 of the 11 families the Lu-null phenotype was caused by the dominant suppressor gene In(Lu). The first reported family demonstrating independence of In(Lu) and LU, through the Au groups, is described together with the third family demonstrating suppression of P1 by In(Lu). The families showed that In(Lu) is not closely linked to HLA. The genetic background for the 11th propositus was not determined; homozygosity of the silent allele LU is a possible but unproved explanation.

Female↗
PubMed1991

Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases.

Nineteen cases are described, including 12 cases from three different families and 7 nonfamilial cases, in which multisystem neurological disease was associated with acanthocytosis in peripheral blood and normal plasma lipoproteins. Mild acanthocytosis can easily be overlooked, and scanning electron microscopy may be helpful. Some neurologically asymptomatic relatives with significant acanthocytosis were identified during family screening, including some who were clinically affected. The mean age of onset was 32 (range 8-62) yrs and the clinical course was usually progressive but there was marked phenotypic variation. Cognitive impairment, psychiatric features and organic personality change occurred in over half the cases, and more than one-third had seizures. Orofaciolingual involuntary movements and pseudobulbar disturbance commonly caused dysphagia and dysarthria that was sometimes severe, but biting of the lips or tongue was rarely seen. Chorea was seen in almost all symptomatic cases but dystonia, tics, involuntary vocalizations and akinetic-rigid features also occurred. Two cases had no movement disorder at all. Computerized tomography often demonstrated cerebral atrophy. Caudate atrophy was seen less commonly, and nonspecific focal and symmetric signal abnormalities from the caudate or lentiform nuclei were seen by magnetic resonance imaging in 3 out of 4 cases. Depression or absence of tendon reflexes was noted in 13 cases and neurophysiological abnormalities often indicated an axonal neuropathy. Sural nerve biopsies from 3 cases showed evidence of a chronic axonal neuropathy with prominent regenerative activity, predominantly affecting the large diameter myelinated fibres. Serum creatine kinase activity was increased in 11 cases but without clinical evidence of a myopathy. Postmortem neuropathological examination in 1 case revealed extensive neuronal loss and gliosis affecting the corpus striatum, pallidum, and the substantia nigra, especially the pars reticulata. The cerebral cortex appeared spared and the spinal cord showed no evidence of anterior horn cell loss. Two examples of the McLeod phenotype, an X-linked abnormality of expression of Kell blood group antigens, were identified in a single family and included 1 female. The genetics of neuroacanthocytosis are unclear and probably heterogeneous, but the available pedigree data and the association with the McLeod phenotype suggest that there may be a locus for this disorder on the short arm of the X chromosome.

Acanthocytes↗
PubMed1988

The Ina and Inb blood group antigens are located on a glycoprotein of 80,000 MW (the CDw44 glycoprotein) whose expression is influenced by the In(Lu) gene.

The Ina and Inb blood group antigens were found to be located on an erythrocyte membrane glycoprotein of 80,000 MW by immunoblotting with human anti-Ina and anti-Inb antibodies under non-reducing conditions. This glycoprotein is shown here to be identical to that defined by monoclonal antibodies to CDw44, and a new murine monoclonal antibody (BRIC 35) is added to this cluster. Experiments with endo-beta-galactosidase and Endo F preparations suggest that the glycoprotein contains one or more N-glycans but that these oligosaccharides do not contain extensive poly-N-acetyllactosaminyl sequences. Experiments using membranes prepared from sialidase-treated normal erythrocytes, from Tn erythrocytes and from Cad erythrocytes suggest that the glycoprotein does not contain a substantial content of O-glycans. The Inb antigen and the epitope defined by a murine monoclonal antibody (BRIC 35) show reduced expression on Lu(a-b-) erythrocytes which result from the effect of the dominant inhibitor gene In(Lu). Evidence is presented here that the Inb antigen is expressed on normal granulocytes and lymphocytes and on the haemopoietic cell lines HEL, K562 and HL-60, a lymphoblastoid cell line and lymphocytes from two patients with B-CLL.

Antibodies, Monoclonal↗
PubMed1979

Homozygous.D.

A homozygote for the Rh complex .D. associated with the rare Evans antigen was identified and her family tested: .D./.D. can be clearly distinguished serologically from -D-/-D-. The immune antibody in the serum of the propositus reacts with all cells tested except homozygous -D-, CwD-, cD- and Rhnull cells.

Female↗
PubMed1979

X-mapping in man: evidence against measurable linkage between anhidrotic ectodermal dysplasia and G6PD deficiency.

A Sardinian kindred segregating for X-linked anhidrotic ectodermal dysplasia (AED), glucose-6-phosphate dehydrogenase (G6PD) deficiency of Mediterranean type, and Xga blood antigen provides evidence against a measurable linkage between the loci for AED and G6PD. Moreover, from the segregation of the combined phenotypes in four scorable sons from two triple heterozygotes with phase known, it seems highly probable that the AED locus is nearer to the centromere than is the G6PD locus.

Blood Group Antigens↗
PubMedDate not supplied

UMC, another Cromer-related blood group antigen.

An antibody found in the serum of a Japanese blood donor detects a new high-frequency red cell antigen named UMC. UMC is absent from Inab phenotype cells, weakly expressed on Dr(a-) cells, and destroyed by alpha-chymotrypsin but not trypsin treatment of red cells. UMC is, therefore, a Cromer-related antigen. Immunoblotting with anti-UMC showed that UMC antigen, in common with other Cromer-related antigens, is carried on a red cell surface glycoprotein with an apparent molecular weight of 70,000, which presumably is the complement regulatory protein decay-accelerating factor.

Adult↗
PubMedDate not supplied

Murine monoclonal antibody MB-2D10 recognizes Rh-related glycoproteins in the human red cell membrane.

The human red cell membrane components reacting with monoclonal antibody MB-2D10 were examined by immunoblotting. The antibody bound to a diffusely staining band extending from Mr 30,000 up to the high-molecular-weight region of the gel in normal membranes and in Rhnull U + membranes, but not in Rhnull U - membranes. Treatment of normal red cells with an endoglycosidase F-containing preparation destroyed the epitope recognized by MB-2D10. The reactivity of the antibody with purified preparations of Rh-related glycoproteins D30 polypeptide, D50 polypeptide, R6A32 polypeptide, and R6A45 polypeptide was also examined. Only the purified R6A45 and D50 components reacted with MB-2D10. These results show that MB-2D10 recognizes a carbohydrate-dependent epitope on the R6A45 and D50 group of Rh-related polypeptides. The results also suggest the possibility that the U antigen arises from interaction between glycophorin B and the Rh-related components D50 and R6A45.

Animals↗