Serum protein polymorphisms in Arab Moslems and Druze of Israel: BF, F13B, AHSG, GC, PLG, PI, and TF.

We report results of typing two population samples, Israeli Arab Moslems and Arab Druze, for seven serum protein genetic variants. Data are presented in comparison with results for the same markers in a sample of Jordanian Arabs. In Israeli Moslems gene frequencies for BF (n = 169) were BF*S = 0.6361, BF*F = 0.3343, BF*S07 = 0.0296, and BF*1 = 0, and for TF (n = 90) the gene frequencies were: TF*C1 = 0.7167, TF*C2 = 0.2611, and TF*C3 = 0.0222. Allele frequencies for AHSG in Israeli Moslems (n = 155) and Druze (n = 192) were AHSG*1 = 0.9129 and 0.8750 and AHSG*2 = 0.0806 and 0.1250, respectively. Gene frequencies for PLG in Moslems (n = 149) and Druze (n = 190) were PLG*A = 0.4597 and 0.5288 and PLG*B = 0.5101 and 0.4188, respectively. The typing of Israeli Arab Druze (n = 194) for F13B resulted in F13B*1 = 0.8454, F13B*2 = 0.0387, F13B*3 = 0.0979, and F13B*4 = 0.0180. Results on the same population for PI (n = 192) were PI*M1 = 0.7839, PI*M2 = 0.1276, PI*M3 = 0.0781, PI*M4 = 0.0026, and PI*M5 = 0.0026. Observed rare alleles in various systems indicate gene flow from Europe, Africa, and Asia into the Middle East. The results on Arab populations were considered in relation to available population data in the three adjacent continents. The emerging gene frequency profile for Arabs seems to fit with the central geographic and climatic position of the Middle East.     

Polymorphism of plasminogen in healthy individuals and patients with cerebral infarction

Phenotyping of plasma plasminogen (PLG) was carried out by the method of agarose gel isoelectric focusing followed by immunofixation or immunoblotting. The allele frequencies calculated from healthy Japanese individuals (n = 795) were as follows: PLG*1 = 0.9440, PLG*2 = 0.0189, PLG*A = 0.0076, PLG*A2 = 0.0006, PLG*B = 0.0138, PLG*B2 = 0.0013, and PLG*C = 0.0138. The PLG phenotype distribution in a group of patients with cerebral infarction (n = 125) was also studied. The allele frequencies were PLG*1 = 0.960, PLG*2 = 0.016, PLG*A = 0.012, and PLG*B = 0.012. No statistically significant association was found between PLG types and cerebral infarction.     

Complement C6 and C7 polymorphisms in Japanese patients with chronic glomerulonephritis

C6 and C7 types were studied in 158 Japanese patients with different types of chronic glomerulonephritis: 75 patients with IgA nephropathy (IgA-N); 49 patients with idiopathic membranous nephropathy (IMN), and 34 patients with minimal-change nephrotic syndrome (MCNS). There were significant differences in the C6 and C7 allele and phenotype frequencies between the patient groups and controls. A strong association was found between IgA-N and C7 5 phenotype (p less than 0.001, RR = 12.71), and between MCNS and C7 5 phenotype (p less than 0.001, RR = 14.20). A significant association between MCNS and C6 B2 phenotype (p less than 0.05, RR = 2.42) was also found. In the IMN patient group, a significant association with C7 4 phenotype (p less than 0.05, RR = 2.42) was observed. Thus, C6 and C7 phenotypes may be causative factors in the development of chronic glomerulonephritis.     

Plasminogen polymorphism in Libyans: description of a new rare variant.

The genetic polymorphism of human plasminogen (PLG) was investigated in Libyans using wide-scale ultrathin-layer polyacrylamide isoelectric focusing with subsequent immunoblotting. The 2 common alleles, PLG*A and PLG*B, and 4 previously reported rare ones, PLG*A3, PLG*M4, PLG*B1 and PLG*B2, were observed. In addition, a new intermediate rare allele designated PLG*MTripoli (PLG*MT) was encountered. The estimated allele frequencies for the genes PLG*A, PLG*B, PLG*A3, PLG*MT, PLG*M4, PLG*B1 and PLG*B2 were 0.6409, 0.3091, 0.0182, 0.0045, 0.0091, 0.0045 and 0.0136, respectively. The isolated probability of exclusion in cases of disputed paternity among Libyans is 23.3%.     

Allele frequencies of human complement factor I in a sample from Iwate, northern Japan, with the description of geographical cline.

Serum samples from 270 healthy blood donors of Iwate prefecture, northern Japan, were examined for polymorphism of factor I (IF) by using polyacrylamide gel isoelectric focusing followed by semidry horizontal electroblotting with enzyme immunoassay. In 270 individuals four different patterns were observed, and these were controlled by two common alleles, IF*A and IF*B, and one rare allele, IF*A2. Allele frequencies were estimated to be 0.1019, 0.8963 and 0.0018 for IF*A, IF*B and IF*A2, respectively. The data of IF allele frequencies thus far reported in Japan excluding Okinawa Island were compared, and a statistically significant (p less than 0.01) geographical cline was detected for IF*A and IF*B alleles.     

An unusual "morphologic" variant of BF S

In the course of family studies of haplotypes of the alleles of the sixth chromosome loci HLA-A, C, B, D/DR, BF, C2, C4A, C4B, and glyoxalase I, we encountered an unusual BF variant. Its mobility was similar to BF F but it appeared to have a lesser intensity after straining with Coomassie Blue, and it was demonstrated by crossed immunoelectrophoresis to be present in lower concentration. It was therefore designated BF FQL. This variant was found on the haplotype HLA-A1, B17, DR7, BF*FQL, C2*C, C4A*6, C4B*1, GLO2. All other haplotypes of this type so far identified carry the BF variant BF S. Following activation of serum samples with zymosan, BF was analyzed by both agarose electrophoresis and isoelectric focusing and immunofixation. On both treatments, serum with BF SFQL produced a Ba pattern identical to that of a sample which was BF S. The Bb pattern for F and S are similar but differ from those of the rare variants BF F1 and BF S1. The Bb pattern of BF FQL was, thus, as expected, the same as BF F or BF S. Hence, we conclude that the variant is a mutant from BF S with mobility similar to BF F. The mutation seemed also to have resulted in a lower concentration of product than normal.     

Complement phenotypes in patients with psoriasis

Phenotype frequencies for the complement proteins C4A, C4B, Bf (factor B) and C3 were performed for 49 Caucasian patients with psoriasis. The C4*A6 allele was present in 26.6% of the patients as compared to 5.4% of healthy regional Caucasian controls, p less than 0.001, relative risk = 6.28. The C4*A6 allele is known to be in linkage disequilibrium with the HLA B17 allele and to produce a non-functional gene product when it occurs with the B17 allele. HLA B17 is known to be associated with psoriasis in many Caucasian populations. Additional findings in the present study were a significant reduction in the C4B*2 allele frequency, a non-significant increase in the Bf*F allele frequency and no difference for Bf or C3 phenotype frequencies in the patients with psoriasis as compared to the controls.     

A new BF variant (F025)

A rare variant of Factor B exhibiting a mobility intermediate between BF F and BF S was described. After comparison with the mobilities of BF F and F075, this variant was designated BF F025. The allele was transmitted together with C2*C, C4A*3, and C4B*1.     

A new BF F variant by polyacrylamide gel isoelectric focusing

Summary Polyacrylamide gel isoelectric focusing followed by electroblotting with enzyme immunoassay was done for the investigation of allotypes of properdin factor B (BF) in serum from 326 Japanese subjects. A new BF F variant tentatively designated BF*Fb1 (b=basic) was detected, the isoelectric point of each band of homozygous BF Fb1 being higher than of BF FF. Family data were in accordance with transmission by mendelian inheritance. The allele frequencies calculated from 326 Japanese subjects were 0.7945, 0.1825, 0.0215, and 0.0015 for BF*S, BF*F, BF*Fb1, and BF*F075, respectively, with that of variant BF*Fb1 being a polymorphic frequency. The distribution of phenotypes fitted the Hardy-Weinberg equilibrium.     

Polymorphism of complement component I in Mongoloid populations: a new genetic variant IF A2

The genetic polymorphism of the complement component I (IF) was investigated in 282 Chinese, 239 Koreans and 198 Japanese. The 3 common IF phenotypes (A, AB and B) and a new rare IF phenotype (BA2) were observed. The obtained allele frequencies are as follows: IF*A = 0.0993 and IF*B = 0.9007 in Chinese; IF*A = 0.0921 and IF*B = 0.9079 in Koreans; IF*A = 0.0985, IF*B = 0.8990 and IF*A2 = 0.0025 in Japanese. These 3 Mongoloid populations showed a much higher degree of IF polymorphism than Caucasian populations.     

BF and C3 genetic polymorphisms in Kaingang Indians from southern Brazil.

The distribution of C3 and BF variants was determined in a sample of 239 Kaingang Indians. The corresponding gene frequencies were as follows: BF*S = 0.9393, BF*F = 0.0356, BF*S05 = 0.0251, C3*S = 0.9769, C3*F = 0.0231. The presence of the BF*S05 allele, which has previously been found only in a Brazilian population, suggests that this allele originated in Amerindians. The comparatively low degree of polymorphism with high frequencies of BF*S and C3*S is in accordance with the relatedness of the Kaingang with other Amerindians, Eskimos and Asian populations.     

C3, BF and C4 polymorphisms in Tunisians

The C3, BF, C4A and C4B polymorphisms were studied in a Tunisian population sample. The allelic frequencies for C3 were S = 0.844 and F = 0.148, and for BF, S = 0.535, F = 0.331, SO7 = 0.075 and F1 = 0.041. The most frequent C4 alleles were A3 and B1 followed in a decreasing order by A2, B2 and the A and B null alleles. The results indicate that the Tunisian population is intermediate between the Caucasian and Arab populations with some trace admixture of African Blacks.     

Genetic polymorphism of properdin factor B (BF) in domestic rabbit

Genetic polymorphism of plasma properdin factor B (BF) was detected in domestic rabbit, Oryctolagus cuniculus , by means of isoelectric focusing and immunoblotting. The analysis of 298 individuals, corresponding to one French and two Portuguese populations, revealed the existence of six alleles, of which BF*A, B and C were common alleles, and D, F and G were rare ones.     

Genetic variants of human B component (BF system) and alpha-1-antitrypsin (PI system) in a population from Sardinia

BF- and PI-type determinations have been performed in a population from Sardinia. The corresponding allele frequencies are as follows: BF*S = 0.5783, BF*F = 0.2189, BF*SO7 = 0.0046, BF*F1 = 0.1982 and PI*M1 = 0.5872, PI*M2 = 0.2041, PI*M3 = 0.0459, PI*M4 = 0.0940, PI*S = 0.0619, PI*Z = 0.0046, PI*N = 0.0023. Whereas the BF system shows the originality of the Sardinian population with a very high BF*F1 allele frequency, the PI system does not reveal any characteristic features.     

Genetic variants of factor B in a population of Jordan

BF phenotyping was performed in a population of Jordan. The observed allele frequencies were as follows: BF*S = 0.5457, BF*F = 0.3744, BF*SO7 = 0.0763, BF*F1 = 0.0075. These values are in agreement with the geographic position and the ethnic composition of Jordan.     

Factor B (BF) allotypes and multiple sclerosis in north-east England.

A significant decrease in the frequency of BF*F allele and an increase of BF*F1 allele was found in 101 clinically definite multiple sclerosis patients compared to 270 normal controls from North-East England. In Dw2 types 41 patients and 60 controls, only the rare allele BF*F1 showed a significant increase in the patients group. For the common BF*S allele a significant increase was found in Dw2+ patients compared to the Dw2- patients, but a slight similar increase observed in Dw2+ controls did not attain significance. This increase in the patient group is attributed to a strong linkage disequilibrium between BF*S and Dw2 alleles. No such linkage disequilibrium exists in the normal controls. There is a suggestion that the BF*S and Dw2+ alleles are more prevalent in chronic progressive patients, implying that in Dw2+ patients BF may influence the progression of the disease.     

The plasminogen polymorphism in South African Negro populations: genetics and anthropogenetics

Summary Genetic polymorphism of human plasminogen (PLG) was investigated in 1252 unrelated individuals from eight South African Bantu-speaking Negro tribes. PLG phenotypes were determined by isoelectric focusing (pH 3.5–9.5 and 5–8 gradients) of neuraminidase-treated samples and subsequent detection by caseinolytic overlay or immunoblotting with specific antibody. No significant difference in the distribution of PLG alleles among the eight ethnic groups was observed. The combined allele frequencies of the common alleles in South African Negroes were 0.6977 for PLG*A, 0.2736 for PLG*B. In addition, six rare alleles were seen: PLG*A3, *A1, *M2, *B1, *B2, *B3. The rare variant PLG*B2 was proven to segregate by autosomal Mendelian inheritance in a family. The combined frequency for the rare alleles was 0.0287. The distribution of phenotypes in the total population sample was found to be in Hardy-Weinberg equilibrium. A striking difference in PLG allele distribution between Negroes from South Africa and published Negroid frequencies from North America could be observed. This difference was also seen in comparison with Mongoloid populations; in contrast, PLG frequencies for South African Negroes were similar or almost identical to known Caucasoid distributions.     

Major histocompatibility complex (MHC) class III genetics in two Amerindian tribes from Southern Brazil: the Kaingang and the Guarani

Population genetic studies of the major histocompatibility complex (MHC) class III region, comprising C2, BF and C4 phenotypes, and molecular genetic data are rarely available for populations other than Caucasoids. We have investigated three Amerindian populations from Southern Brazil: 131 Kaingang from Ivaí (KIV), 111 Kaingang (KRC) and 100 Guarani (GRC) from Rio das Cobras. Extended MHC haplotypes were derived after standard C2, BF, C4 phenotyping and restriction fragment length polymorphism (RFLP) analysis with TaqI, together with HLA data published previously by segregation analysis. C2 and BF frequencies corresponded to other Amerindian populations. C4B*Q0 frequency was high in the GRC (0.429) but low in the Kaingang. Unusual C4 alleles were found, viz. C4A*58, A*55 and C4B*22 (presumably non-Amerindian) and aberrant C4A*3 of Amerindian origin occurring with a frequency of 0.223 in the GRC. C4A*3 bands of homo- and heterozygous individuals carrying this variant were Rodgers 1 positive and Chido 1,3 positive, showed a C4A specific lysis type and a C4A like α-chain. Polymerase chain reaction studies and sequencing showed that this is based on a C4A*3 duplication with a regular C4A*3 and a partially converted C4A*0304 carrying the C4B specific epitopes Ch 6 and Ch 1,3. Associations of class III haplotypes with particular RFLP patterns were similar to those reported for Caucasoids. The previously described association between combined C4A and CYP21P deletions and the 6.4 kb TaqI fragment was not seen in these Amerindians. This fragment occurred within a regular two locus gene structure in the Kaingang, representing a “short” gene at C4 locus I. C4 and CYP21 duplications were frequently observed. The distribution of extended MHC haplotypes provides evidence for a close relationship between the KIV and KRC and a larger genetic distance between the two Kaingang groups and the GRC. Received: 6 March 1997 / Accepted: 13 May 1997     

Video enhanced imaging of the fluorescent Na+ probe SBFI indicates that colonic crypts absorb fluid by generating a hypertonic interstitial fluid

We report a rare ‘hypomorphic’ C4 allotype detected during routine screening in controls for the Rogers:1 epitope. C4B^*15 was distinguished by having only faint staining when using polyclonal anti-C4 antibody on agarose inimunoelectrophoresis (e.g. hypomorphic), having relatively weak hemolytic activity but being strongly reactive with monoclonal antibody to Rodgers 1. TaqI restriction fragment length polymorphism (RFLP) demonstrated that C4B^* 15 segregated with 7 kb and 5.4 kb C4 gene fragments and with the haplotype HLA-A2,C-, B50,BW6,DR7,DQ2,DR52,S07C2(1,15). The 5.4-kb fragment was more intense than the 7.0-kb fragment, suggesting duplication of the 5.4-kb fragment. This hypomorphic C4 allotype (genotype FREQUENCY = 0.0088) has diminished expression of C4 epitopes commonly recognized by polyclonal anti-C4 and may be missed by standard phenotyping methods.     

Electrophoretic and isoelectric focusing studies in Brazilian Indians: data on four systems

Three-hundred ninety-nine individuals living in seven populations of two Brazilian Indian tribes (Macushi and I?ana River Indians) were tested for the phosphoglucomutase 1 (PGM1), properdin factor B (BF), haptoglobin (HP), and alpha-1-antitrypsin (PI) systems. We observed significant internal heterogeneity in the two tribes for the PGM1 alleles and in the Macushi for the HP markers. Frequencies in three of the four systems (the exception being BF) also show clear differences in the Macushi and I?ana River Indians. Compared with other ethnic groups, South American Indians generally present high frequencies of PGM1*1B, BF*S, HP*1S, and PI*M3. On the other hand, PGM1*1A, PI*M1, and PI*M2 are reduced, and HP*1F is absent or rare. This is the first report about HP subtypes among American Indians.