Anthropological studies among Libyans. Erythrocyte genetic factors,serum haptoglobin phenotypes and anthropometry

Anthropological studies were done on 1276 Libyans from the Mediterranean cities of Tripoli and Benghazi, and from Sabha southward in The Sahara. The incidences of hemoglobin (Hb)-S and glucose-6-phosphate dehydrogenase (G-6-PD) deficiency were low in the coastal areas and significantly high in Sabha. Hb-C occurred sporadically in Tripoli and Sabha, and was absent from Benghazi in the east. One case of Hb-J Benghazi was noted. There were no significant differences in the ABO blood group and Rh₀ (D) type distributions in the three localities. G-6-PD gene Gd^A frequency was significantly high in Sabha. The lowest value of 6-phosphogluconate dehydrogenase (6-PGD) gene PGD^A frequency and highest value of the gene PGD^C were in Sabha. Adenylate kinase (AK) gene AK² was only detectable in Tripoli. Acid phosphatase (AP) gene P^a frequency in Sabha was more than twice that in Tripoli and Benghazi, while P^c was distinctly lower in Sabha than in the northern cities. Haptoglobin gene Hp¹ frequency was almost identical in all areas. Anthropometric measurements revealed overall homogeneity of the three samples, closer similarity in the coastal region to adjacent North African populations, and Negroid influence in the Saharan Libyans. Anthropometry substantiated findings from blood markers.     

Genetic studies in Paraguay: blood group, red cell, and serum genetic patterns of the Guayaki and Ayore Indians, Mennonite settlers, and seven other Indian tribes of the Paraguayan Chaco

Genetic studies of 540 Paraguayan Indians from nine tribal groups and 51 Mennonites are presented for ABO, MNSs, P₁, Rh, Kell, Lewis, Duffy, Diego; for serum immunoglobulins and haptoglobins, G6PD-deficiency, and thalassemia trait. Group O gene frequencies for all Indian groups were 1.00; for r (cde), 0.00. Tapiete, Lengua, Toba, and Sanapana R_z (CDE) frequencies were among the highest ever reported. N frequencies were high for Ache Kwera (Guayaki), Lengua, Cheroti, Guarayu, Tapiete; N and s low for Ayore. MS frequencies were high for Sanapana, Lengua, Ayore; Ns for Tapiete. Diego was notably absent for Toba, Lengua, Guarayu, Tapiete, Ayore. Homogeneous frequencies for Fy^a (1.000) occurred among Guarayu and Tapiete, and for P₁ among Guayaki. Inv(a) frequencies were low for Cheroti, Chulupi, Guayaki. Hp 1 among Guayaki (Ache Kwera 0.15) is lowest ever reported. G6PD deficiency and abnormal hemoglobins were uniformly absent from all groups. Mennonite results were homogeneous and point toward Dutch origins. Differences among groups studied, and between Paraguayan and other Amerinds emphasize importance of genetic drift and founder principle. Abandonment of their tribes by mixed-blood offspring is partly responsible for apparent genetic purity and homogeneity of groups.     

Activities of Glucose-6-phosphate, 6-phosphogluconate,and Isocitrate Dehydrogenases from Leishmania donovani Cultivated at 25 and 37 C*

SYNOPSIS. The activities of glucose-6-phosphate dehydrogenase (G-6-PD) (EC No. 1.1.1.49), 6-phosphogluconate dehydrogenase (PGD) (EC No. 1.1.1.44), and isocitrate dehydrogenase (ICD) (EC No. 1.1.1.42) from promastigotes of Leishmania donovani strain 3S grown at 25 C in modified Tobie's (mT) medium and from promastigotes of the 37 C-adapted substrain of this strain cultivated in the mT at 37 C were assayed at 25 and 37 C. At 25 C ICD from both the strain and the substrain had the highest, and PGD, the lowest activity; the activity of G-6-PD was intermediate, but much closer to that of ICD. Irrespective of the temperature of the assay, the activities of G-6-PD and ICD from the 37 C substrain were significantly higher than those of these enzymes from the parental strain; however, the activity of PGD from the 25 C strain was slightly higher than that of this dehydrogenase from the 37 C-adapted stock. No significant activity losses of G-6-PD and ICD from either the strain or the substrain were noted after incubation of the extracts in the presence of 0.25 M sucrose at 37 C for 2 hr. PGD was unstable in such extracts, but it could be rendered stable by the addition of 4 mM 6-phosphogluconate. G-6-PD was the least and ICD the most dependent on Mg²⁺ ions. In the 15–25 C range, the Q₁₀ values of the enzymes from the 25 C strain were 2.83, 2.5, and 2.63 for G-6-PD, PGD, and ICD, respectively. These values for the respective enzymes in the 25–35 C range were 2.06, 1.67, and 1.62. The Q₁₀ values of the enzymes from the 37 C substrain in the 15–25 C range were 2.06 for G-6-PD, 3.25 for PGD, and 2.77 for ICD; in the 25–35 C range, the corresponding values were 1.67, 1.46, and 1.83. Cultivation of the 37 C substrain at 25 C was accompanied by a drop in G-6-PD and ICD activities.     

Distribution of hereditary factors in the blood of Indians of the Gila River, Arizona

This paper reports the distribution of blood groups, A-B-H secretors, haptoglobins, transferrins and hemoglobin types among Indians of the Gila River Valley in Arizona. Specimens were procured from the following putative full-bloods: 909 Pima, 37 Papago, and 124 Maricopa; and from the following known mixed-bloods: Pima-Papago 134, Pima-Maricopa 26, Pima-Other Indian 41, Pima-Caucasian 33. These 1304 samples were tested for factors in the A-B-O, M-N-S-s, P, Rh-Hr, Lutheran, Kell-Cellano, Lewis, Duffy, Kidd and Diego blood group systems, and for additional blood factors (Wr^a), Do^a, Vel, Yt^a, Co^a, Gy^a, Sav, and L. W. Serum samples were tested for haptoglobins and transferrins. Hemolysates, prepared from whole blood, were tested for hemoglobin types. The results are presented on appropriate tables as number and per cent of phenotypes for the various blood group antigens and their calculated allele frequencies. Locations of the populations from which blood samples were procured are shown on a map (fig. 1). Tests made by earlier workers on the blood of Arizona Indians and related tribes are presented for comparison and discussed. The usual high frequencies for allele O reported in Amerinds was found among the putatively full-blood Gila Indians; the 124 Maricopa presented the maximum frequency of 1.000. High frequencies were reported generally for M, s, P¹, R¹ (CDe), R² (cDE), k (100%) Fy, and Do^a alleles. Low frequencies were reported for N, S, r (cde), R° (cDe), fy, Le¹w and Di^a (Pima only). There was a wide variation in frequencies for jk, and Hp¹, and there were 17 Transferrin Tf B₁C observed in 270 Pima samples tested. All the remaining were classified as Tf C except two Tf B;C from mixed-bloods. All samples tested for Vel, Yt^a, Co^a, Sav, and Hemoglobin (A) showed the maximum frequency (1.000) for their genes. The following antigens were completely absent: Lu^a, Mi^a, Vw, Mt^a, p, P^k, r^y (CdE), K, and Wr^a. The results of this study suggests that the Papago tribe presents fewer genes of non-Indian origin than the Pima, and the Maricopa least of the three populations.     

Distribution of hereditary blood groups among Indians in South America. IV. In Chile with inferences concerning genetic connections between Polynesia and America

This is the fourth paper in a series on the distribution of blood groups among Indians of South America. It reports the findings on the Indians of Chile and the Polynesians of Chile's Easter Island. Blood specimens were procured from the following putatively pure Indians and unmixed Polynesians: 44 Alacaluf of Puerto Eden, Isla Wellington, 141 Mapuche (Araucanian) of Lonquimay, Malleco Province, 80 Atacameños of Antofagasta Province, and 45 Polynesians of Easter Island. These 310 samples were tested for blood factors in the A-B-O, M-N-S-s, P, Rh-Hr, Lutheran, K-k, Lewis, Duffy, Kidd and Diego systems, and for the Wright (Wr^a) agglutinogen. Serum samples were tested for haptoglobins and transferrins. Hemolysates prepared from the blood clots were tested for hemoglobin types. The results are presented as phenotype incidences and calculated gene frequencies in appropriate tables. Locations of the populations from which blood samples were procured are shown on two maps. The high frequencies for the O gene usually reported for South American Indians obtain in putatively pure Chilean Indians but A¹ is high in Easter Island Polynesians. In both Indians and Polynesians M, s, R¹ (CDe), R² (cDE), Lu^b, k, Le^H, and Fy^a gene frequencies are high and B, N, S, Mi^a, Vw, Rº (cDe), r (cde), Lu^a, K, Le¹, Fy^b, and Wr^a (Ca) are low or absent. The Diego (Di) gene is present in the Mapuche and Atacameños but absent in the Alacaluf and Polynesians. Hp¹ gene frequencies were determined only in the Alacaluf and Atacameños, in which they are 0.48 and 0.67 respectively. Transferrins were determined for the Alacaluf and Atacameños Indians and all were classified as Tf C. All Chilean Indian and Polynesian specimens were tested electrophoretically for hemoglobin types and all contained only hemoglobin (A) as a major component.     

X-Linked Leigh's syndrome

Summary Three subpopulations of the Hadza were examined for the following antigens and proteins including enzymes A₁ABH, MNS Henshaw, C c C^W D D^u E e V Ce, Lu^a, KJs^a, Fy¹ Fy², Jk^a Jk^b, Di^a, Wr^a, 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.     

Restriction and persistence of polymorphisms of HLA and other blood genetic traits in the Parakanã Indians of Brazil

Results concerning HLA types and 22 other blood genetic systems are reported for the Parakanã Indians of northern Brazil, a tribe that is notable for the light color and pilosity of some of its members. No clear evidence of Caucasoid admixture was found, but the Parkanã show unusual frequencies in the EsD¹, PGM¹₁, Gc², Cp^B, Fy^a, Di^a, and L^M genetic markers. In addition, the very rare Rh allele r^y is present, as well as what seems to be a new PGM₂ variant. There is very limited heterogeneity in the HLA system. All these distinctive features may have arisen through a combination of founder effects and genetic drift. However, low F_is values, as well as higher mean ages in heterozygous as compared to homozygous persons, suggest that an heterotic effect is counteracting these dispersive forces.     

Human-type blood groups and Gm factors in gibbons (Hylobates)

Blood specimens from 69 gibbons (63Hylobates lar, 4Hylobates concolor, and 2Hylobates pileatus) were tested for human-type ABO, MN, and Rh blood groups. AmongH. lar, three phenotypes were noted in the ABO and MN blood groups respectively, but all fourH. concolor were grouped as AM. All group A gibbons were of subgroup A₁; subgroups A₂B and A₁₂B were observed at a low frequency in group AB gibbons. Le^b antigen was detected in about 30% of the red cell samples fromH. lar, but all the samples were negative for Le^a. All the gibbons tested had c(hr) antigen but no other Rh antigens (D, C, E, and e) in their red cells. Some selected blood samples fromH. lar were also tested for some other blood group antigens and for the Gm and Inv factors. The Jk^a antigen was detected in all the red cell samples tested, but the S, s, U, K, k, and Fy^a antigens were not. In the tests of plasma with anti-Gm (1),H. lar could be divided into two groups, i.e., Gm(1)^Gi and Gm(–1)^Gi; Gm(2), Gm(4), and Inv(1) were absent in the species.     

Distribution of hereditary blood groups among Indians in South America. I. In Ecuador

Blood specimens were procured from 658 Quechua, 36 Colorado, 233 Jivaro, 244 Cayapa, and 48 Secoya Indians of Ecuador. These were examined for antigens in the A-B-O, M-N-S-s, P, Rh-Hr, Lutheran, K-k, Lewis, Duffy and Kidd systems and for Diego (Di^a), Wright (Wr^a), and Berrens (Be^a) agglutinogens as well. Hemolystes were prepared and studied for hemoglobin types and the serum samples were tested for haptoglobins and transfserrins. Gene frequencies are high for O, M, s, R¹, (CDe), R² (cDE), Lu^b, k, Kp^b, Le^b and Fy^a; and low or absent for A, B, N, S, Mi^a, Vw, Mt^a, R⁰ (cDe), V (ce^s), Lu^a, K, Kp^a, Le^a, Fy^b, Js^a, Wr^a and Be^a. The Diego (Di^a) gene is present but its frequency varies greatly from tribe to tribe. Gene frequency Hp¹ is well within the range previously reported for Indians in Middle America excepting the Colorado in which population the frequency of 0.889 is unusually high. All 723 serum specimens tested for transferrins were C or CD. No D or BC types were found. All Ecuadorian Indian bloods tested electrophoretically contained only hemoglobin (A) as a major component.     

Genfrequenzen und Vererbung im Duffy-System

Summary Genotyping in the Duffy-system was carried out using special combined trypsin-antiglobulin-techniques. The heterozygous presence of the third allele Fy was estimated by the single dose of the antigen Fy^a or Fy^b, whereas the homozygous types Fy^aFy^a or Fy^bFy^b gave the double-dosage-effect.Genotyping on 1408 unrelated persons in Hesse gave the following gene frequencies: Fy^a=0.4251; Fy^b=0.5582; Fy=0.0167. Expected and observed values showed a good correspondence (p0.72 for 4 d.f.).In phenotyping of 3768 persons, the very rare type Fy (a-b-) was found only once, which is in good agreement with the calculated gene frequency of Fy.Among those genotyped, family studies were subsequently done on 22 selected propositi. In the 13 cases in which the propositus had the third allele in the heterozygous state, the same third allele was again found at least once in the family where the propositus was a child (7x). Where the propositus was a parent (6x), the third allele was also found three times in the children; this allele was not transmitted in only 3 families with 4 children. In contrast, we did not find a single Fy-gene in the 8 families where the propositus was Fy^aFy^a or Fy^bFy^b.Finally, phenotyping was done in 283 unselected families. In this group, genotyping was restricted to those cases in which the distribution of Duffy-phenotypes suggested the presence of the third allele. In both groups of families not a single case of contradiction against the hereditary rules was observed.The reliability of genotyping is discussed, as well as its importance for anthropological studies and paternity cases.

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Direktor: Profl Dr. W. Spielmann

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Mit Unterstützung durch die Deutsche Forschungsgemeinschaft.     

Blood groups, red cell enzymes, and cerumen types of the Ahousat (Nootka) Indians

A survey of the blood groups of a Nootka band produced frequencies characteristic of North American Indians for the ABO system (0.99 for 0, 0.0 for B, and 0.01 for A), Rhesus (0.822 for cDE, 0.011 for cde, 0.023 for cDe), Lutheran (1.00 for Lu(a—)), Duffy (0.505 for Fy(a+)) and Diego (0.039 for Di(a+)). K is not absent though the frequency is not great (0.028). Surprising results were obtained for the MN locus (0.399 for M, 0.601 for N), P (0.209 for P₁), and Lewis (0.568 for Le(a+)). A frequency of phosphoglucomutase type PGM₁¹ of 0.890 was found; all hemoglobins were type AA; no G-6-PD deficiency was found an all were type B positive; the frequency of the dry cerumen allele was found to be 0.323.     

Red cell glucose-6-phosphate dehydrogenase deficiency and haemoglobin variants among ten endogamous groups of Maharashtra and West Bengal

Summary Over 900 individuals from ten endogamous groups in the Indian states of Maharashtra and West Bengal were studied for G-6-PD deficiency and haemoglobin variants. The incidence of G-6-PD varied from nil to 17.3%, while that of Hb-S varied from nil to 22.3%. In general, the tribal populations of Maharashtra are characterized by the presence of a high incidence of both Hb-S and G-6-PD deficiency. The caste Hindus showed an absence of Hb-S and rather low G-6-PD deficiency. Immigrant Parsis possessed the highest incidence of G-6-PD deficiency (17.3%).     

Blutgruppen und Lepra bei moçambiquanischen Völkerschaften

Zusammenfassung Etwa 600 moçambiquanische Eingeborene, vorwiegend Chuabo und Macua wurden auf folgende Blutgruppensysteme bzw. Merkmale untersucht: A B 0, M N S s S^u, C C^wc D E e, K k Kp^aJs^aJs^b, P₁, Fy^aFy^bFy, Jk^aJk^b, Le^a, Di^a, Gc, SEPh, PGM₁, PGM₂ und ADA.Im Durchschnitt gesehen überwiegen die typischen Negermerkmale bei den Moçambiquanern mehr als bei anderen negriden Populationen. Signifikante Unterschiede zwischen verschiedenen Stämmen, insbesondere zwischen Macua, Chuabo, Bitonga und Changane, wurden nicht gefunden. In nahezu allen Systemen unterschieden sich dagegen die leprösen von den nichtleprösen Macua mehr oder weniger deutlich. Im AB0-, MNSS^us-, Rhesus-, Lewis-, Gc- und PGM-System sind die Unterschiede sogar signifikant. Zur Zeit haben wir keine Erklärung für diese Befunde.

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Blood groups and lepra in populations of moçambique

Summary About 600 natives of Moçambique, preferably Chuabo and Macua were tested for the following blood group systems, resp. markers: A B 0, M N S s S^u, C C^wc D E e, K k Kp^aJs^aJs^b, P₁, Fa^aFy^bFy, Jk^aJk^b, Le^a, Di^a, Gc, SEPh, PGM₁, PGM₂ and ADA.The typical blood group markers for negroes were found to a higher extent than in nearly all the other negroid populations. Significant differences between the single tribes of Moçambique, especially between Macua, Chuabo, Bitonga and Changane were not found. In almost all systems, however, marked differences between leprous and non-leprous Macuas could be detected. These were statistically significant in the AB0-, Rhesus-, Lewis-, Gc- and P.GM-system. At this time no explanation for these findings can be given.

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Mit Unterstützung durch die Deutsche Forschungsgemeinschaft.     

Glucose-6-phosphate dehydrogenase deficiency and colour-vision studies in Indian Muslims

Summary 5 groups of Indian Muslims have been studied for G-6-PD deficiency and colour blindness. It was observed that no colour-blind person was found in Moplahs and Bohras. The incidence of G-6-PD deficiency was 2% in Khojas and mixed Muslim group. Findings are discussed in the light of available data on Indian populations.

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Zusammenfassung Fünf Gruppen indischer Muslims wurden auf G-6-PD Mangel und Farbenblindheit hin untersucht. Unter Moplahs und Bohras fanden sich keine farbblinden Personen. Unter Khojas und in einer gemischten Muslimgruppe wurde G-6-PD Mangel in einer Häufigkeit von 2% beobachtet. Die Daten werden mit denen der anderen indischen Bevölkerungen verglichen.

     

G-6-PD Jalisco and G-6-PD Morelia: Two new Mexican variants

Summary Two new G-6-PD variants designated G-6-PD Jalisco and G-6-PD Morelia were identified in two unrelated Mexican families. An additional G-6-PD variant was found in each family: G-6-PD trinacria and G-6-PD A^-. In both families compound heterozygotes were identified. G-6-PD Jalisco and G-6-PD Morelia belong to Classes 3 and 4, respectively. G-6-PD Morelia is the first variant from its class with a high Km for NADP and a low Ki for NADPH.     

Application of a multiplex PCR genotyping assay of 31 red blood cell antigens for establishment of a panel of reference DNA in China

DNA based blood group genotyping has been widely used in clinical blood transfusions, and a number of different molecular blood group testing methods have been developed, including the detection of single nucleotide polymorphism (SNP) and genomic DNA sequencing. As the molecular bases of blood groups can differ widely between ethnic groups, a set of reference DNAs, especially for the Chinese population, is required for the development and validation of these methods, and for their optimal use in routine practice in China. In this study, a total of 100 DNA samples obtained from 60 established cell lines and 40 Chinese blood donors were typed for 31 red blood cell antigens of 13 blood group systems using a multiplex polymerase chain reaction (PCR) assay. Finally, nine DNA samples were selected to establish a panel of reference DNA that included M, N, S, s, Mur, Lu^a, Lu^b, Au^a, Au^b, K, k, Fy^a, Fy^b, Jk^a, Jk^b, Di^a, Di^b, Sc1, Sc2, Do^a, Do^b, Co^a, Co^b, Kn^a, Kn^b, In^b, Vel antigens and Fy (a-b-) null phenotype.     

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 A_i B H; MNSs Mg Henshaw Ny^a Mur V^w; CC^wcDEeCe; K k Kp^a Kp^b Js^a Js^b; P₁; Lu^a; Fy¹ Fy²; Jk^a Jk^b; Wr^a; Zt; Vel; Sw^a; 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.     

Tests of association of immunoglobulin allotype genes and viral oncogenesis in chickens

Chickens from Regional Poultry Research Laboratory (RPRL) inbred line 6₃ are resistant to virally-induced Marek's disease (MD) and lymphoid leukosis (LL) and are relatively strong regressors of virally-induced Rous sarcomas. In contrast, RPRL line 100 chickens are highly susceptible to MD and LL and are weaker regressors of Rous sarcomas than line 6₃. RPRL lines 100 and 6₃ differ for alleles at the IgG-1 (G-1) allotype locus, but have identical IgM-1 (M-1) allotype alleles. To test the possible association of the G-1 locus with variations in resistance to virally-induced tumors, homozygous and heterozygous genotypes among F₃ crosses were infected. F₃ chickens with different G-1 types were comparable in their resistance to MD tumors following inoculation with the JM strain of the MD virus, and for their ability to regress Rous sarcoma tumors induced by the Rous sarcoma virus (RSV) RAV-1. However, following RAV-1 virus infection a smaller proportion of G-1 ^a /G-1 ^a F₃ or F₄ birds developed LL tumors than G-1 ^a /G-1 ^e and G-1 ^e /G-1 ^e birds. Genes determining immunoglobulin heavy chains were therefore associated with a recessive resistance to B-cell lymphomagenesis in chickens.Deceased     

Population study in Assam: ABO blood groups, haemoglobin E and G-6-PD deficiency

An attempt has been made to give a comprehensive picture of occurrence of ABO blood groups, haemoglobin E and G-6-PD deficiency among certain representative populations of the two major racial groups--Mongoloids and Caucasoids--of Assam, India. The qualitative pattern of distribution of ABO gene frequencies shows a clear demarcation between these two major groups. The same is true in respect of HbE gene, too. The Mongoloids present high frequencies of this gene, while among the Caucasoids its frequency is comparatively much lower. With regard to G-6-PD deficiency the distinction between the two groups is not so clear cut, yet some Mongoloid populations show relatively higher incidence of the trait in comparison to that in the Caucasoid populations.     

Plasma and erythrocyte magnesium, manganese, zinc, and plasma calcium levels in G-6-PD-deficient and normal male children

Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is the most common human enzymopathy in the world. Trace elements are important for normal hematopoiesis and can play a role in acute hemolytic anemia induced by G-6-PD deficiency. For this purpose, we studied two groups consisting of 10 male children who are G-6-PD-deficient and 12 age-matched normal male children to compare plasma and erythrocyte magnesium, manganese, zinc, and plasma calcium levels between G-6-PD-deficient and normal children. All assays were performed under normal conditions free of any oxidative attack that may result in hemolytic crisis in G-6-PD-deficient subjects. All parameters in each group did not differ significantly except for erythrocyte G-6-PD activities. These data show that plasma and erythrocyte trace element contents of G-6-PD-deficient subjects do not differ in normal conditions.