Typing of normal and variant red cells with ABO, Rh, and Kell typing reagents using a gel typing system.

In 1989 Lapierre et al. described a novel method of detecting agglutination reactions by the use of a Sephadex (DiaMed ID Typing System) gel held in a microtube. This report examines the use of gels containing ABO, Rh, and Kell system specific antibodies. The anti-A and -B were monoclonal reagents; anti-A,B, and those for the Rh and Kell systems were polyclonal. Five hundred and fifty-one tests performed for the ABO system detected all but the most weakly reacting variants, a detection rate superior to most commercially available reagents. Five hundred and thirty samples were typed for Rh antigens. One hundred and twenty-seven of these were of various D category III through VII types (Dcats) and 154 were Du>s. The gel system detected all but seven DVI variants and seven Dus. The seven DVI variants, from individuals with no anti-D in their sera, gave reactions identical to the seven Dus when tested against a panel of over 50 monoclonal IgG and IgM anti-Ds. The 554 samples tested for the K1 antigen gave correct results.

Comparison of the reactions of the Rh-related murine monoclonal antibodies BS58 and R6A.

The murine monoclonal antibodies BS58 and R6A are known to recognize epitopes related to the human Rh system: neither antibody reacts with Rhnull cells and the BS58 antigen is not expressed by -D- or .D. cells. It is shown here that the numbers of BS58 and R6A antigen sites vary with Rh phenotype. Both epitopes are well represented on cells of the CDe/CDe, CDe/cDE and CDe/cde phenotypes; BS58 sites are markedly reduced on cde/cde and cDE/cde and are only just detectable on cDE/cDE cells when compared with R6A sites. The number of R6A sites per red cell ranged between 20,000 and 150,000. The evidence indicates that the BS58 epitope is not on the polypeptides carrying D or R6A, nor is it uniquely on one of the polypeptides carrying either C, c, E or e. It is suggested that the BS58 epitope is either common to all the CcED polypeptides or that it is present on a polypeptide which has not yet been identified biochemically.

Identification and partial characterization of the human erythrocyte membrane component(s) that express the antigens of the LW blood-group system.

Rhnull human erythrocytes lack the antigens of the Rhesus blood-group system, have an abnormal shape, have an increased osmotic fragility, and are associated with mild chronic haemolytic anaemia. Rhnull erythrocytes also lack all antigens of the LW blood-group system, but the functional significance of this deficiency is unknown. We have identified, by immunoblotting with two mouse monoclonal antibodies (BS46 and BS56), the LW-active component(s) in normal human erythrocytes as a broad band of Mr 37 000-47 000 on SDS/polyacrylamide-gel electrophoresis. Treatment of intact human erythrocytes with endoglycosidase F preparation destroyed the epitopes recognized by antibodies BS46 and BS56, suggesting that one or more N-glycosidically linked oligosaccharides are required for the formation of the LW antigens. Estimation of the number of LW antigen sites per erythrocyte by using radioiodinated purified antibody BS46 gave average values of 4400 molecules/cell for Rh(D)-positive adult erythrocytes and 2835 molecules/cell for Rh(D)-negative adult erythrocytes. Like the Rh(D) polypeptide, the LW polypeptide(s) is (are) associated with the cytoskeleton of normal erythrocytes. These results suggest the possibility that the absence of the LW polypeptide may also contribute to the functional and/or morphological abnormalities of Rhnull erythrocytes.

Blood group variation in the Isle of Lewis.

Blood groups and protein and enzyme polymorphism distributions were studied in 285 residents on the Isle of Lewis, in the Outer Hebrides. As well as gene frequency calculations for individual loci, genetic distance estimations were made and a phylogenetic tree was constructed. The results indicated several major differences from North-west European populations, with high values of R2(CDe), Rz(CDE) and P1. Among protein and enzyme polymorphisms Hp1, EAPA and PGM1(1) had very high frequencies. Genetic distances show Lewis to be unlike both Western and Eastern North European populations, while the phylogenetic tree shows a common, but rather distant, ancestry with Icelanders. This genetic uniqueness of Lewis as a whole is accompanied by a considerable degree of heterogeneity within the island itself, especially in the ABO and Rh systems. Stornoway, with a greater proportion of residents descended from immigrant stock, shows a greater degree of similarity with neighbouring populations. The reasons for both the overall uniqueness and the heterogeneity within Lewis are discussed, but in the absence of a large time-depth and adequate vital records, the various roles of selection, drift and migration in producing them are difficult to establish.

Genetic factors in the population of Plati, Greece.

One-thousand, thirty-eight individuals from Plati, Greece were examined for the following red cell antigens, serum proteins, and red cell enzymes A A1 Ai B H; MNSs Mg Henshaw Nya Mur Vw; CCwcDEeCe; K k Kpa Kpb Jsa Jsb; P1; Lua; Fy1 Fy2; Jka Jkb; Wra; Zt; Vel; Swa; Jensen, Radin, Gerbich, Diego, Gregory, Haptoglobin, Transferrin, Acid phosphatase, Adenylate kinase, Adenosine deaminase, Esterase-D, Glucose-6-phosphate dehydrogenase, Phosphoglucomutase, 6-Phosphogluconate dehydrogenase, Phosphohexose isomerase, Lactate dehydrogenase, Malate dehydrogenase, and Superoxide dismutase. The results are discussed in detail and compared with other Greek and neighbouring populations. Because of the Plati population's long history of residence in the Cappadocian area of Turkey the data have been compared, whenever possible, with results for that region.

The blood groups and other hereditary blood factors of the Icelanders.

Bjarnason, Bjarnason, Edwards, Fridriksson, Magnusson, Mourant and Tills (1973) published preliminary data on a study of Iceland. The present paper gives the complete data of the study and extends the sample size for most of the genetic systems to over 1500 individuals, approximately 1/130 of the population. The sample was divided into seven subpopulations and these were compared using a genetic distance matrix. Considerable internal variation was revealed with two groups appearing very different. The seven regions were then compared with possible founding populations and no close relationships were found. The possible mechanism for the internal variation and the differences between Icelandic gene frequencies and those from other N.W. European populations are discussed.

Red cell antigen, serum protein and red cell enzyme polymorphisms in Eastern Highlanders of New Guinea.

A series of 1,187 blood samples from eight population groups in the Eastern Highlands of Papua New Guinea were tested for genetic variation in blood groups, serum proteins and red cell enzyme systems. The populations belonged to the language groups Gahuku-Asarc-Bena Bena, Kamano, Yagaria, Keiagana, Fore, Agarabe, Auyana and Tairora. Polymorphic variation was found in the ABO, MNS, P1, Rh, Hp, Tf, SEP, 6-PGD, ADA, MDH, and PGM genetic systems. East to West variation was shown in the language groups; the O, S, R2, and R0 genes increase in frequency from East to West and the A, R1, and M genes decrease in the same direction. In the East higher frequencies were found for the Du antigen, for the PGM21 gene and for a PGM second locus variant. The MDH 3 variant was found in all the populations, its highest value being in the Tairora.

Red cell antigen, serum protein and red cell enzyme polymorphisms in Karkar Islanders and inhabitants of the adjacent North Coast of New Guinea.

Blood samples from the Waskia and Takia populations of Karkar Island, Papua New Guinea, and other nearby mainland populations, were tested for genetic variation in blood group, serum protein and red cell enzyme systems. Polymorphic variation was present in the ABO, P, MNS, Rh, Lewis, Duffy, Kidd and Gerbich blood group systems, in the Hp and Tf serum protein systems, and in the acid phosphatase, 6-PGD, ADA, PGM, MDH, and G-6-PD enzyme systems. A small number of variants was found in other systems: there were 4 Lu(a+), 1 Kp(a+), 2 C variants in the acid phosphatase system, 6 LDH variants, 1 ADA3-1 and 1 AK2-1 sample. All samples were negative for the red cell antigens Cw, Vw, He, K, Jsa, Dia, Wra, Rd and Marriott, and no variation was observed in the PHI enzyme system. The results are discussed in relation to those obtained on other Papua New Guinea populations.

Blood group, protein, and red cell enzyme polymorphisms of the Hadza of Tanzania.

Three subpopulations of the Hadza were examined for the following antigens and proteins including enzymes A1ABH, MNS Henshaw, CcCwDDuEeVCe, Lua, KJsa, Fy1Fy2, JkaJkb, Dia, Wra, haemoglobin, haptoglobin, transferrin, acid phosphatase, glucose-6-phosphate dehydrogenase, 6-phosphogluconate dehydrogenase, phosphoglucomutase, adenylate kinase, lactate dehydrogenase, and malate dehydrogenase. The results are discussed in relation to other African populations including the Sandawe, Nyaturu, Pygmies, San, and Khoikhoi.

Genetic studies of the population of the Isle of Man.

A sample of the Isle of Man population was tested for the following red cell antigens, serum proteins and red cell enzymes: ABH; MNSs He; Cc CwD Du Ee Ce; K k Kpa Kpb; Lua; P1; Fya Fyb; haptoglobin; transferrin; Ag; acid phosphatase; phosphoglucomutase; adenylate kinase; esterase D; adenosine deaminase and 6-phosphogluconate dehydrogenase. The study comprised 219 blood donors, 338 secondary school children and 116 females attending the only antenatal clinic. The results were studied for intra-island variation and for their their relationship with other Irish Sea Basin populations. The total sample results were compared with data for England, Cumbria, Eire, Northern Ireland, S.W. Scotland and Wales using a genetic distance measure.

Genetic surveys from the Central, Morobe and Northern Districts, Papua New Guinea.

The results of blood group surveys on a number of linguistic groups inhabiting contiguous areas within the Goilala sub-district of the Central District, the southern part of the Morobe District and the Northern District are reported. Altogether about 1900 subjects were tested, but the extent of testing varied. Red cell enzyme and serum protein systems were also investigated in two groups. Similarities and dissimilarities of blood group distributions are noted, as also are some possible gene gradients among peoples living to the north of the main divide. Two groups, the Kuni/Tauade of the Goilala sub-district, and the Roro/Kovio living towards the Papuan Gulf coast seem well distinguished from the remainder. Genetic distances were calculated for five populations north of the divide, and agree with the geographical and linguistic situation. The Weri people of the middle Waria provided an example of Hp 2-1 modified, two examples of the MDH.NG.1 variant and one of AK 2-1.

Red cell antigen, serum protein, and red cell enzyme polymorphisms in inhabitants of the Jimi Valley, Western Highlands, New Guinea.

A series of blood samples from four villages in the Jimi Valley, Western New Guinea Highlands, has been tested for genetic variation in blood group, serum protein, and red cell enzyme systems. Polymorphic variation was present for the AB0, MNS, P, and Rh blood group systems, for the Hp and Tf serum protein systems, and for the acid phosphatase, 6-PGD, PGM, MDH, and ADA enzyme systems. One each of the following variants was detected: Ge(a-), G6PD deficient, AK 2-1 and PHI 7-1 or 8-1. All samples tested were Cw-, K-, Kp(a-), Wr(a-), Fy(a+ b-), Rd-, and LDH normal. Genetic distance analysis places the Jimi Valley populations closer to peoples of the Chimbu-Chuave and Wahgi-Hagen areas than to the Maring people of the Simbai Valley to the north.

Genetic markers in epilepsy: a survey.

In a study of genetic markets in patients with epilepsy, 30 genetic systems have been tested and the results compared with all previously published studies on this subjects. Only one marker, Ss + ss/SS in the MNSs blood group system showed a statistically highly significant difference (p below 0.001) in the epileptic patients compared with a control group. A previously reported difference in the Pc gene of the red cell acid phosphatase system was not confirmed in the present study. The basis for an association between the S antigen and epilepsy is difficult to understand at present and will need to to be confirmed by studies on other groups of epileptic patients and in the aetiologically different groups before being accepted. This is especially so as the Chalfont patients are the only group so far studied for this blood group system.

The inherited blood factors of some Northern Nigerians.

Results are presented on 147 individuals from northern Nigeria who were tested for the red cell antigens A, A1, B, H, M, N, S, s, He, P1, C, D, Du, E, c, e, Ce, v, Lua, Jka (some for Jkb), Lua, K, Jsa (some for Jsb), Kpa, Rd, Fya and Fyb, and for variants of the serum proteins haptoglobin and transferrin and of the red cell enzymes acid phosphatase, phosphoglucomutase, glucose-6-phosphate dehydrogenase, adenylate kinase, adenosine deaminase, phosphohexose isomerase and lactate dehydrogenase. The results found are of interest as they are among the very few published for this area of Nigeria, but they show little that is unexpected for people living in this region.

Micromethods in blood group serology.

A micromethod is described that can be used for typing red cells by saline, albumin and anti-human globulin techniques and that can also-be used for Gm and Inv typing. It has the advantage that very small amounts of sera can be used, 4 microliter for saline and albumin methods and 10 microliter for the anti-human globulin technique. The system enables one method to be applied to all techniques, and as the prepared plates with their antisera can be stored frozen it is ideal for large scale testing.

The blood groups and other heriditary blood factors of Yemenite and Kurdish Jews.

Blood specimens collected fro Yemenite and Kurdish Jews living in Israel were tested for 11 blood group systems 5 plasma protein systems and 9 systems of red-cell enzymes. The results of these tests were combined with those of tests on other Yemenite and Kurdish Jews, reported by Godber et al. (1973), the total data sorted according to the place of origin of the subjects or their parents in the Yemen Arab Republic and Kurdistan respectively. Gene frequencies were calculated for each of the local populations so defined. It is confirmed that the Yemenite Jews show a close relationship to the Yemenite Arabs, but those from the southern part of the Yemen Arab Republic have a higher frequency of African marker genes than those in the north. The Habbanite Jews have a similar rather high frequency of African genes (Bonné et al., 1970). The Kurdish Jews from Iran and northern-western Iraq show a moderate genetic resemblance to the indigenous Kurds of Iran, while those from south-eastern Iraq differ considerably, especially in their low frequency of A1, high B, high CDe (R1) and low cde (r).

The use of the FST statistic of Wright for estimating the effects of genetic drift, selection and migration populations, with special reference to Ireland.

The Fst of Wright has been used to examine the available blood group, serum protein and enzyme data for the world, NW Europe and the counties of Ireland. These include the ABO, secretor, Lewis, MNSs, Rh, Kell, Duffy, Lutheran, Kidd, P, Diego, haptoglobin, Gc, Lp, Ag, adenosine deaminase, adenylate kinase, acid phosphatase, 6-phosphogluconate, phosphoglucomutase and transferrin systems. The highest value was found for the Fy gene. Much lower values than those calculated for world data were found for NW Europe and Ireland with the exception of the Lpa antigen which had high values in Ireland. sigma2p was used to estimate rates of genetic drift in an Irish population and it was estimated that a migration rate of 4% would counter genetic drift in Ireland.