Further evidence for heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Papua New Guinea

Summary Four new G6PD variants have been characterized in individuals from Papua New Guinea. This study demonstrates that the previously reported Markham variant and the newly characterized Salata variant may be widely distributed in Papua New Guinea. The data presented here together with those of previously published studies demonstrate a degree of heterogeneity of G6PD deficiency that is much higher than that in other regions of the world where G6PD deficiency is common.     

Genetic variants of soluble malate dehydrogenase in new guinea populations

Summary 10 cases of an S-MDH variant have been detected in New Guinea. 3 cases were found among 199 samples from the Fore linguistic group and 6 cases among 9 related members of a family from the Agarabi linguistic group, both groups being located in the Eastern Highlands. 1 case was found in 24 samples from the Sepik district. The new variant has been given the trivial name S-MDH New Guinea-1.     

The RHD variants in Chinese population

This study aimed to explore the distribution of the variant RHD genotypes in Jiangsu, China. A total of 108541 blood donor samples and 17 family members were tested from 2020 to 2021. A total of 121 RHD variants were found in 414 D negative samples and their families, including seven weak D, four partial, and three Del alleles. RHD*15 and RHD*DVI.3 were the prevalent D variant alleles in Jiangsu Province. Heterozygous alleles were identified (c.730G>C, c.1227G>A), and a case of unique intronic mutation was detected (c.802-41_802-38delCTCT). This study suggests that the frequency of RHD variants is crucial for establishing specific RHD genotyping strategies and can be applied in larger-scale routine tests for blood donors.     

Glucose-6-phosphate dehydrogenase deficiency in Papua New Guinea

Summary A total of 362 males from various regions of Papua New Guinea were screened for red cell glucose-6-phosphate dehydrogenase (G6PD) activity. Twenty-six G6PD deficient individuals were identified. Biochemical characterization of G6PD purified from these subjects has revealed 13 new variants and several copies of previously described forms of G6PD. This study illustrates the extreme heterogeneity of G6PD deficiency among the people of Papua New Guinea.     

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.     

Frequency of private electrophoretic variants and indirect estimates of mutation rate in Papua New Guinea.

Data on rare and private electrophoretic variants have been used to estimate mutation rates for populations belonging to 55 language groups in Papua New Guinea. Three different methods yield values of 1.42 x 10(-6), 1.40 x 10(-6), and 5.58 x 10(-6)/locus per generation. The estimates for three islands populations off the north coast of New Guinea--Manus, Karkar, and Siassi--are much lower. The variability in mutation rates estimated from rare electrophoretic variants as a function of population size is discussed. The mean mutation rate in Papua New Guinea is less than half the estimates obtained for Australian Aborigines and Amerindians.     

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

Summary 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 ABO, 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, AK2-1 and PHI 7-1 or 8-1. All samples tested were C^w-, 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 variants of cytoplasmic malate dehydrogenase (MDH:EC:1.1.1.37) in populations in England and the Indian subcontinent

Summary A new variant malate dehydrogenase is described, designated S-MDH^Ind to indicate its discovery in the Indian subcontinent pending full comparison with all other variants. It occurred during a survey of the incidence of variant S-MDH phenotypes in 4149 subjects in north-east England and 1494 subjects from several populations in the Indian region. The variants previously thought to be restricted to the New Guinea region and to African populations occurred in three English subjects in northeast England. The incidence of variant S-MDH phenotypes in other populations is summarised.     

Glutamic pyruvic transaminase and esterase D types in the Asian-Pacific area

Summary More than 11000 blood samples have been examined for glutamicpyruvic transaminase (GPT) and almost 9000 for Esterase D (EsD) in the Asian-Pacific area; GPT ³ and GPT ⁶ were detected in several population groups in New Guinea, Singapore and some Pacific islands. No previously undescribed alleles were found in either system.     

Hepatitis C Virus Variants with Decreased Sensitivity to Direct-Acting Antivirals (DAAs) Were Rarely Observed in DAA-Naive Patients prior to Treatment

The prevalence of naturally occurring hepatitis C virus (HCV) variants that are less sensitive to direct-acting antiviral (DAA) inhibitors has not been fully characterized. We used population sequence analysis to assess the frequency of such variants in plasma samples from 3,447 DAA-naive patients with genotype 1 HCV. In general, HCV variants with lower-level resistance (3- to 25-fold increased 50% inhibitor concentration [IC₅₀]) to telaprevir were observed as the dominant species in 0 to 3% of patients, depending on the specific variant, whereas higher-level resistant variants (>25-fold-increased IC₅₀) were not observed. Specific variants resistant to NS5A inhibitors were predominant in up to 6% of patients. Most variants resistant to nucleo(s/t)ide active-site NS5B polymerase inhibitors were not observed, whereas variants resistant to non-nucleoside allosteric inhibitors were observed in up to 18% of patients. The presence of DAA-resistant variants in NS5A, NS5B, or NS3 (including telaprevir-resistant variants), in baseline samples of treatment-naive patients receiving a telaprevir-based regimen in phase 3 studies did not affect the sustained viral response (SVR). Treatment-naive patients with viral populations containing the telaprevir-resistant variants NS3 V36M, T54S, or R155K at baseline achieved a 74% SVR rate, whereas patients with no resistant variants detected prior to treatment achieved a 76% SVR rate. The effect of specific resistant variant frequency on response to various DAA treatments in different patient populations, including interferon nonresponders, should be further studied.     

The distribution of serum protein and enzyme groups among the Batak of Samosir Island (Sumatra,Indonesia)

Summary 188 blood samples from Batak of Samosir Island (Sumatra, Indonesia) have been studied for electrophoretic variants of haemoglobin, 14 red cell enzyme and 5 serum protein systems. The acid phosphatase, 6 PGD, PGM₁ and ADA enzyme systems are polymorphic, and a single AK 2-1 person was detected. Polymorphism is present in the haptoglobin, transferrin and protease inhibitor systems. Two variant alleles, Tf ^Dchi and Tf ^B are present in the transferrin system, but the B variant has not been identified. Similarly, 3 persons with caeruloplasmin variants were found, but also these variants have not been identified. No abnormal haemoglobins were detected. All other systems revealed the presence of only normal phenotypes.

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Zusammenfassung 188 Blutproben des Batak-Stammes von Samosir Island (Sumatra, Indonesien) wurden auf elektrophoretische Varianten des Hämoglobins in 14 Erythrocyten-enzym-und 5 Serumprotein-Systemen untersucht. Die Saure Phosphatase, 6GPD, PGM₁ und ADA-Systeme sind polymorph, und eine einzige AK 2-1-Person wurde gefunden. In den Haptoglobin-, Transferrin- und Pi-Systemen treten Polymorphismen auf. Zwei abweichende Allele, Tf ^Dchi und Tf ^B, sind im Transferrin-System zu finden, aber die B-Variante ist nicht bestimmt worden. Ebenso wurden 3 Personen mit Ceruloplasmin-Varianten gefunden, doch auch diese Varianten wurden nicht identifiziert. Keine abnormen Hämoglobine wurden gefunden. Alle anderen Systeme wiesen nur normale Phenotypen auf.

     

Genetic polymorphism and rare variants of alpha 1-antitrypsin in the population of Moscow. Research using isoelectric focusing on an ultrathin gel

The data are presented on distribution of subtypes and rare variants of Pi system for Moscow population. Serum samples were obtained from 210 families of healthy newborn (father-mother-newborn) from several Moscow maternity hospitals. Phenotypes of alpha 1-antitrypsin were detected by isoelectric focusing in ultrathin layer polyacrylamide gel with the range 3.5-6. In this study 5 common PiM subtypes (except M3M3) were found. The observed distribution of Pi subtypes shows a good agreement with the Hardi-Weinberg equation. The gene frequencies of the subtypes estimated for Moscow population were as follows: PiM1-0.7662, PiM2-0.1779, PiM3-0.0398. They did not show any difference from the corresponding frequencies in other European populations. In the course of our studies, some rare phenotypes, such as MS, MZ, FM and IM that were observed in most European populations, were detected. Furthermore, a very rare variant (MT) which had been only once revealed in European population, was found. The total gene frequency of all rare variants was 0.0162.     

A population genetic survey of the haptoglobin polymorphism in Melanesians by DNA analysis.

We have determined the haptoglobin (Hp) genotypes of 831 Melanesians from Vanuatu, Papua New Guinea, and New Caledonia by Southern blot analysis of DNA extracted from umbilical cord and peripheral blood samples. There was complete agreement between these genotypes and the protein phenotype in cases where both were determined, and genotyping was possible in cases where no serum haptoglobins were measurable. Subtyping of Hp1 alleles using restriction enzymes showed that Melanesians, like Mongoloids and Australian Aboriginals, have only the Hp1S allele. Three cases of Hp Johnson were found in Vanuatu, and further restriction mapping supported a partial gene triplication model for the structure of this variant. We also report a new common BclI restriction enzyme polymorphism upstream of the Hp1 gene. The advantages of using DNA for haptoglobin typing are discussed.     

Genetic Change in Mutations at the T/t-Locus in the Mouse

Recessive lethal or semilethal alleles at the T/t locus in the mouse generate new t-variants, with characteristics different from the parent allele at a rate of about 10^-3. Almost invariably the variant chromosome carries marker genes derived from the opposite parental chromosome. New t-mutations obtained in this way are sometimes recessive lethals that are indistinguishable from those in already known complementation groups. Most derived t-mutations are viable, however. This paper summarizes data on the rate and types of variants produced by members of each of the six lethal complementation groups, and by semilethal alleles. It appears that particular complementation groups preferentially generate certain types of variants, and that in general, the pattern of variant production runs "uphill," that is, to less abnormal states. The data are compatible with the hypothesis that t-mutations represent some extent of altered chromosome and that variants are produced by loss of abnormal material.     

The Incorporated What Group: Ethnographic,Economic and Ideological Perspectives on Customary Land Ownership in Contemporary Papua New Guinea

Land law and economic development in Papua New Guinea, by David Lea and Timothy Curtin. Cambridge Scholars Publishing, Newcastle, UK, 2011, 207pp. ISBN: 9-781443-826518.

The incorporated land group (ILG), created by the Land Group Incorporation Act (1974) in Papua New Guinea, was one of a number of results of the 1971 Committee of Inquiry into Land Matters that convened in Papua New Guinea just before Papua New Guinea independence in 1975. It allowed for the legal incorporation of customary land-holding groups and was designed to promote business and cash-earning opportunities in rural Papua New Guinea in the post-independence period of nation- and citizen-building.

In more recent times, the ILG however has been put under considerably more strain by being forced to acquire functions that were not envisioned by its architects in 1971—namely the receipt, distribution and investment of incomes from resource extraction projects. The ILGs set up by various resource projects (most significantly in the petroleum project areas of PNG) have all run into various and severe difficulties in meeting these requirements of resource income management and business development on a scale not ever anticipated in 1971. Using examples from Papua New Guinea's petroleum project area and elsewhere, I cast doubts on the capacities of contemporary indigenous landowning units to make incorporation work for them in the face of current organization and financial challenges.     

Genetic variants of 6-phosphogluconate dehydrogenase in the Indonesian populations

Blood samples from 2,091 individuals representing 14 Indonesian populations (11 Austronesian and 3 non-Austronesian speakers) have been tested electrophoretically for 6-phosphogluconate dehydrogenase (6-PGD). Two common alleles, PGDA and PGDC are found in all populations studied, and the phenotype distribution agrees well with the Hardy-Weinberg equilibrium. The PGDC gene frequency varies from as low as 3.5% in the Galelarese to 29% in the Asmat. In general, the PGDC allele seems to decrease in frequency towards the west. A low frequency of PGDC in the Galelarese, a non-Austronesian-speaking population, is thought to be the result of admixture of Austronesian genes, which has not led to language change. In addition to the common alleles, a new variant, PGD A-Lombok, is also described.     

Patterns of haplotype diversity within the serpin gene cluster at 14q32.1: insights into the natural history of the α1-antitrypsin polymorphism

The levels of haplotype diversity associated with different alpha1-antitrypsin (PI) alleles were assessed by the analysis of three microsatellites located within or close to corticosteroid-binding globulin (CBG), alpha1-antitrypsin [PI-(TG)n] and protein C inhibitor [PCI-(TG)n] loci in three populations with different historic backgrounds: Portugal, the Basque Country and S?o Tomé Príncipe (Gulf of Guinea). Unlike the more distant PCI-(TG)n repeat, allelic variation at PI-(TG)n reflected distinct phases of mutational recovery of microsatellite diversity around different founder alleles and showed a considerable differentiation between alpha1-antitrypsin protein variants. In accordance with population history, the Basque sample presented overall reduced levels of microsatellite variation. The African sample, although presenting the highest PCI-(TG)n diversity, showed a lineage-specific reduction in PI-(TG)n heterozygosity within the oldest M1Ala213 variant that could have been caused by (1) selection at a closely linked locus or (2) biases in the microsatellite mutation process leading to a stable equilibrium distribution. Age estimates of alpha1-antitrypsin variants based on microsatellite variation suggest that the Z deficiency allele appeared 107-135 generations ago and could have been spread in Neolithic times. The S mutation has an older 279- to 470-generation age, indicating that its high frequencies in Iberia did not result from a recent bottleneck and that PI*S could have originated in this region. M2 and M3 types had lower age estimates than would be expected from their wide geographical distributions, suggesting that their dispersion in Europe might have been preceded by important bottlenecks.     

A new hereditary single band variant of the Gc system

Summary A new single band variant (Gc Ar) or the Gc subtypes not identical with the known Gc variants has been detected in the plasma of a healthy blood donor by isoelectric focusing. Using this technique the variant is represented by a single band which has a similar isoelectric point to the Gc 1C2 anodal band. It is well known that the single band Gc phenotypes remain unaltered after neuraminidase treatment. Nevertheless, the new single band variant (Gc Ar) is altered after neuraminidase treatment as is Gc 2A3. After neuraminidase treatment, the Gc Ar band is affected and moved to the nearby position of the Gc 2 band. Investigation of the proband's family shows that the variant occurs combined with the common alleles Gc 1F, Gc 1S and that it has an autosomal dominant inheritance.     

Salivary gland amylase polymorphism in pigs and cattle detected by affinity electrophoresis

New allelic variants of salivary gland alpha-amylase in pigs (AMY-1C, AMY-1D) have been detected using affinity electrophoresis. In yak, zebu and in hybrids (yak x cattle, zebu x cattle) a new AMY-1 allelic variant (AMY-1D) has been found using the same method.     

An extended survey of the genetic polymorphism at the human coagulation factor XIII: a subunit structural locus

The distribution of the three previously reported alleles, with normal products at the factor XIII A subunit structural locus, FXIIIA*1, FXIIIA*2 and FXIIIA*4 has been studied in populations from the region extending from the Indonesian archipelago through Papua New Guinea, Australia and New Zealand to the Pacific Islands of Micronesia, Melanesia and Polynesia. In addition a population from the Caspian Littoral of Iran and a population of South American Indians were studied. The FXIIIA*1 and FXIIIA*2 alleles were polymorphic in all populations studied. The distribution of the FXIIIA*4 allele suggests that it may be a Melanesian marker.