Blood genetic markers in Bengali Muslims of Bangladesh

Serum protein (albumin, haptoglobin, ceruloplasmin, transferrin and group-specific component), haemoglobin, and red cell enzyme (glucose-6-phosphate dehydrogenase, 6-phosphogluconate dehydrogenase, acid phosphatase, esterase D, adenylate kinase, glyoxalase I, phosphoglucomutase, lactate dehydrogenase, malate dehydrogenase, phosphohexose isomerase and superoxide dismutase) polymorphisms were studied among the Bengali Muslims of Bangladesh. In general, the gene frequencies of the polymorphic systems were similar to those in West Bengal and Assam. There appears to be a relatively strong Mongoloid influence in the present population as evidenced by the presence of HbE and TfDChi, higher frequencies of Hp1 and GcIF, and a lower AK2 frequency.     

Anthropological studies in Assam, India. 1. Observations on five Mongoloid populations

Five Mongoloid population groups from Upper Assam (Ahom, Chutia, Deuri, Mishing and Moran) have been investigated for the distribution of anthropometric and dermatoglyphic traits as well as for that of ABO blood groups and PTC taste sensitivity. The results are discussed with special reference to extent and causes of intergroup variability.     

Hemoglobin E distribution in ten endogamous population groups of Assam, India

Previous studies have reported a high incidence of hemoglobin E (HbE) in Northeast Indian populations. In the present study 10 endogamous populations of Assam belonging to two racial groups, Caucasoid and Mongoloid, were examined. The frequency of HbE gene (Hb beta E) in the Caucasoid caste populations is around 0.1, whereas the gene is highly prevalent in the Mongoloid populations, frequencies ranging between 0.2 and 0.6. Predominance of Hb beta E in the Tibeto-Burman speakers is contrary to observations made in Southeast Asia, where an association between Austro-Asiatic speakers and high prevalence of HbE exist. The highest occurrence of the gene in this area, which is on the far end of the proposed centre of distribution in Northern Kampuchea and Northeast Thailand, is also a deviation from the expected pattern of gene distribution. It is speculated that Hb beta E in the Tibeto-Burman populations of Assam arose by an independent mutation which contributed to the high frequencies of Hb beta E in the Northeast Indian populations.     

The distribution of the Hb Constant Spring gene in Southeast Asian populations

Summary The distribution of the hemoglobin Constant Spring (Hb CS) gene in eight populations in Southeast Asia (including Assam) was determined using oligonucleotide hybridization. Hb CS was absent in two Assamese populations with a high prevalence of Hb E. The Hb CS gene frequency was 0.033 in northern Thailand and near 0.01 in central Thailand and Cambodia. High frequencies, between 0.05 and 0.06, were observed in northeastern Thailand. The present data and a similar study in Laotians suggest that the Lao-speaking populations of the Mekong River basin in northeastern Thailand and Laos have the highest frequencies of the Hb CS gene in Southeast Asia.     

Anthropological studies in Assam, India. 3. Observations on three Brahmin groups

Three Brahmin groups from Lower, Middle and Upper Assam (Kamrup, Darrang, Sibsagar) have been investigated for the distribution of anthropometric and dermatoglyphic traits as well as for that of ABO blood groups and PTC taste sensitivity. The intergroup variability is discussed.     

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.     

High prevalence of haemoglobin E in three populations of the Malda district, West Bengal, India.

High frequencies of haemoglobin (Hb) E were reported earlier from Assam in northeast India. In the present study one of the three populations of the Malda district of West Bengal, called the Deshi, was found to show one of the highest incidences of the Hb E gene (0.61) recorded so far. A founder effect and/or local inbreeding may possibly explain this observation.     

A note on the frequency distribution of AB0 and rhesus blood groups in four Thai populations of Assam (India) and their position among the Mongoloids of this region

An attempt has been made to give a picture of the distribution of AB0 and Rhesus blood groups in four Thai populations of Assam, India. Intragroup heterogeneity and their position among the Mongoloid populations of this region have also been examined. In all of these groups the frequency of the 0-allele was found to be the most predominant one followed by B- and A-alleles, respectively. A similar trend is observed in some other populations of Asia. The populations under study show statistically similarity with none of the Mongoloid populations of Assam. The incidence of Rhesus-negatives in the populations under study ranges from complete absence to below 2%.     

DNA haplotypes and frameworks associated with the beta-globin gene in the Kachari population of Assam (India)

DNA haplotypes and frameworks associated with the beta-globin gene were determined in a Tibeto-Burman group, the Kachari, from Upper Assam, India, using restriction analysis at eight restriction sites. Of the total of 59 subjects, 26 were homozygous for HBB*A and 33 homozygous for HBB*E. Complete haplotype determination in 33 subjects revealed a conspicuous difference in haplotype distribution between HBB*A- and HBB*E-bearing chromosomes. The Southeast Asian HBB*E-associated haplotype -+- +- (27-2 in the present terminology) predominated on HBB*E chromosomes. The previously established beta-globin-associated frameworks 1, 2 and 3 were evenly distributed among the HBB*A chromosomes, whereas all HBB*E chromosomes had framework 2. These findings favor a common origin of the HBB*E gene in Southeast Asia and Assam.     

Investigations on the variability of haptoglobin, transferrin and Gc polymorphisms in Assam, India

Ten different population groups of Assam - Brahmins, Kalitas, Kaibartas, Rajbanshis, Muslims, Ahoms, Chutias, Kacharis, Karbis and Sandwals - have been typed for haptoglobin and for transferrin (Tf) and Gc subtype polymorphisms. Tf and Gc allele subtype frequencies show a considerable inter-population heterogeneity. From genetic distance analysis it appears that the populations under study form some distinct clusters, which can be explained by the historical and ethnic affiliations of these populations. Especially the distribution of Gc subtype alleles reveals some Mongoloid admixture among Assamese populations, which is reflected by the presence of Gc1A8 alleles in them.     

Preventing extinction and improving conservation status of Vanilla borneensis Rolfe—A rare,endemic and threatened orchid of Assam,India

Vanilla borneensis Rolfe is considered as a rare, endemic and threatened terrestrial climbing orchid of Assam, India. The plant is restricted to only two pockets of Assam with a poor population size. Therefore, conservation of this plant through proper scientific investigation is urgently needed. The present study has as its objectives to study the distribution, standardization of suitable macropropagation methods for reinforcement and reintroduction in suitable wild habitat, as determined by ecological niche modelling (ENM) for the purposes of conservation. For improving the conservation status of the species, potential area and habitat for reintroduction was determined using maximum entropy (MaxEnt) distribution modelling algorithm. Seed germination under natural conditions was found to be very poor for which a macropropagation protocol was standardized; plantlets were raised and reinforced to locations where the population size is very small i.e., mean density, frequency of occurrence and abundance in relation to other associated species was 17.77, 14.16 and 0.82 respectively. Macropropagation method standardized here through cutting was found to be more efficient in terms of time and cost. Application of 100 ppm indole −3- butyric acid (IBA) and 40 ppm naphthalene acetic acid (NAA) significantly improved rooting traits. Further, survival rate was measured significantly very high at 73% while 1000 numbers of V. borneensis plantlets were transferred to the field. Present study has improved the population and conservation status of V. borneensis.     

Using genetic monitoring to inform best practice in a captive breeding programme: inbreeding and potential genetic rescue in the freshwater pearl mussel <Emphasis Type="Italic">Margaritifera margaritifera</Emphasis>

Freshwater pearl mussel (Margaritifera margaritifera) populations are declining in Northern Ireland to the extent that a captive breeding programme was established on the Upper Ballinderry river in 1998. Previous genetic analysis of the hatchery broodstock and their first cohort of offspring showed significant levels of inbreeding (F _IS  = 0.166). The broodstock, which currently numbers ca. 90 individuals, was supplemented with new individual mussels, whilst in 2013, a previously unknown population was discovered on the Lower Ballinderry river. The aim of the present study was to determine whether the rotation of the broodstock has led to a decrease in the levels of inbreeding in the second cohort of juveniles, and to determine whether the new population found in the Lower Ballinderry was genetically distinct from the captive bred population and populations from the Upper Ballinderry, which represent the source of the hatchery broodstock. Genotyping using eight microsatellite markers indicated that levels of inbreeding in the second cohort of captive-bred mussels were high, (F _IS  = 0.629), and were comparable to those sampled from the original cohort and the hatchery broodstock (F _IS  = 0.527 and 0.636 respectively). Bayesian analysis of population structure indicated that the newly discovered Lower Ballinderry population was genetically distinct from the broodstock and its source populations on the Upper Ballinderry. The observed differentiation was primarily due to differences in allele frequencies, and was most likely a result of genetic drift. The occurrence of ten alleles, albeit at low frequency, in the Lower Ballinderry population, including four private alleles, suggests that this new population could be incorporated into the broodstock with the aim of decreasing levels of inbreeding in the future.     

A fundamental relationship between genotype frequencies and fitnesses

The set of possible postselection genotype frequencies in an infinite, randomly mating population is found. Geometric mean heterozygote frequency divided by geometric mean homozygote frequency equals two times the geometric mean heterozygote fitness divided by geometric mean homozygote fitness. The ratio of genotype frequencies provides a measure of genetic variation that is independent of allele frequencies. When this ratio does not equal two, either selection or population structure is present. Within-population HapMap data show population-specific patterns, while pooled data show an excess of homozygotes.     

A pilot study on the frequency structure of histological neoplasm diagnoses in rats

There are large differences in the frequencies of different kinds of neoplasms in a human or animal population. The question arises, whether the set of these frequencies shows some characteristic feature. Our fitting results on neoplasm frequency data relating to laboratory rats show that the frequencies are approximately lognormally distributed. At the same time, fitting results with the logarithmic series distribution, also frequently used in similar studies, are poor. A good fit of the Zipf-Mandelbrot distribution, fitted to the descendingly ordered dominant and subdominant frequencies can be achieved, sometimes after omitting some diagnoses. We point out the possibility that the omitted frequencies may be considered "unnatural" ones. The good fit of a particular frequency distribution to the diagnosis frequency set suggests a corresponding chance mechanism in forming the occurrence probabilities of different kinds of neoplasms. A frequently used scalar feature of frequency distributions of categorical data is the concentration or diversity. It was found that in the female rat population the diagnoses are more concentrated among the diagnosis categories. A possible explanation may involve the fact that females mature faster than males. The study of the distribution properties of the diagnosis frequencies promises the observation of new epidemiological phenomena.     

Gaucher disease: gene frequencies in the Ashkenazi Jewish population.

DNA from over 2,000 Ashkenazi Jewish subjects has been examined for the four most common Jewish Gaucher disease mutations, which collectively account for about 96% of the disease-producing alleles in Jewish patients. This population survey has made possible the estimation of gene frequencies for these alleles. Eighty-seven of 1,528 individuals were heterozygous for the 1226G (N370S) mutation, and four presumably well persons were homozygous for this mutation. The gene frequency for the 1226G allele was calculated to be .0311, and when these data were pooled with those obtained previously from another 593 Jewish subjects, a gene frequency of .032 with a standard error of .004 was found. Among 2,305 normal subjects, 10 were found to be heterozygous for the 84GG allele, giving a gene frequency of .00217 with a standard error of .00096. No examples of the IVS2(+1) mutation were found among 1,256 samples screened, and no 1448C (L444P) mutations were found among 1,528 samples examined. Examination of the distribution of Gaucher disease gene frequencies in the general population shows that the ratio of 1226G mutations to 84GG mutations is higher than that in the patient population. This is presumed to be due to the fact that homozygotes for the 1226G mutation often have late-onset disease or no significant clinical manifestations at all. To bring the gene frequency in the patient population into conformity with the gene frequency in the general population, nearly two-thirds of persons with a Gaucher disease genotype would be missing from the patient population, presumably because their clinical manifestations were very mild.     

Increased frequency of 6-thioguanine-resistant lymphocytes in peripheral blood of workers employed in cyclophosphamide production

The frequency of 6-thioguanine-resistant peripheral blood lymphocytes has been determined by autoradiography in a control population and a population of cyclophosphamide-exposed individuals. The mean variant frequency in a non-exposed population was found to be 2.76 ± 1.48 × 10⁻⁵. Subpopulations of smokers and non-smokers revealed statistically significantt differences in the variant frequencies, i.e. 3.52 ± 1.55 × 10⁻⁵ and 2.07 ± 1.05 × 10⁻⁵ respectively. In 20 out of a total of 23 individuals employed in cyclophosphamide synthesis and manufacturing, the variant frequency of 6-thioguanine-resistant lymphocytes was found to be higher than the maximum individual frequency found in the control population. The mean variant frequency in the cyclophosphamide-exposed population was 13.64 ± 13.56 × 10⁻⁵, a statistically significant increase as compared to the mean control frequency. There was no correlation between variant frequency and duration of employment suggesting that this test reflects the actual exposure and not a cumulative effect.     

Gene polymorphism of the renin-angiotensin system in six ethnic/geographic regions of Belarus

The insertion/deletion polymorphism of the angiotensin-converting enzyme gene (ACE) and the T174M polymorphism of the angiotensinogen gene (AGT) have been studied in six ethnic/geographic regions of Belarus. Significant intrapopulation differences in ACE genotype frequencies have been found for the northern and eastern regions (the Dvina and Dnepr basins, respectively). Significant differences in the AGT genotype frequencies have been found between populations of the Dnepr basin and populations of all other Belarusian regions. The allele and genotype frequencies of the genes studied in the Belarusian population and populations of other regions of the world have been compared. The frequencies of the insertion (I) and deletion (D) alleles of the ACE gene in the Belarusian population are 50.7 and 49.3%, respectively, which is similar to these frequencies in European countries. The frequency of the M allele of the AGT gene in Belarus is 16.6%, which is higher than its frequency in populations of European, African, and Asian origins.     

ACE and LRPAP1 insertion-deletion polymorphisms in a northern Ivory Coast population

The ACE and the LRPAP1 gene insertion-deletion polymorphisms were determined in 133 healthy individuals sampled from Ouangolodougou, a village located in northern Ivory Coast. No sex differences were found in ACE and LRPAP1 gene frequencies. The ACE insertion and deletion alleles had frequencies of 0.346 and 0.654, respectively. The ACE gene was not in Hardy-Weinberg equilibrium because of an excess of heterozygote genotypes and a deficiency of I/I genotypes compared to the expected values. Statistical analysis showed a significantly lower frequency of I/I genotypes in the Ivory Coast population compared to Sudan, Kenya, African Americans, and African Brazilians (p < 0.05), whereas no differences were found with respect to Somalia. Conversely, the frequencies of the insertion and deletion alleles in the Ivorian population did not differ from those of other African populations. The LRPAP1 insertion and deletion allele frequencies found in our study (0.192 and 0.808, respectively) did not differ significantly from the Czech and Spanish populations, the only two populations previously characterized for this polymorphism. However, the frequency of the I/I genotype was significantly lower than the frequencies observed in the European samples. Because of the limited information on the LRPAP1 gene polymorphism distribution in worldwide populations, it was not possible to draw any conclusion.     

Determinants of echolocation call frequency variation in the Formosan lesser horseshoe bat (Rhinolophus monoceros)

The origin and maintenance of intraspecific variation in vocal signals is important for population divergence and speciation. Where vocalizations are transmitted by vertical cultural inheritance, similarity will reflect co-ancestry, and thus vocal divergence should reflect genetic structure. Horseshoe bats are characterized by echolocation calls dominated by a constant frequency component that is partly determined by maternal imprinting. Although previous studies showed that constant frequency calls are also influenced by some non-genetic factors, it is not known how frequency relates to genetic structure. To test this, we related constant frequency variation to genetic and non-genetic variables in the Formosan lesser horseshoe bat (Rhinolophus monoceros). Recordings of bats from across Taiwan revealed that females called at higher frequencies than males; however, we found no effect of environmental or morphological factors on call frequency. By comparison, variation showed clear population structure, with frequencies lower in the centre and east, and higher in the north and south. Within these regions, frequency divergence was directional and correlated with geographical distance, suggesting that call frequencies are subject to cultural drift. However, microsatellite clustering analysis showed that broad differences in constant frequency among populations corresponded to discontinuities in allele frequencies resulting from vicariant events. Our results provide evidence that the processes shaping genetic subdivision have concomitant consequences for divergence in echolocation call frequency.     

Population dynamics of defensive symbionts in aphids

Vertically transmitted micro-organisms can increase in frequency in host populations by providing net benefits to hosts. While laboratory studies have identified diverse beneficial effects conferred by inherited symbionts of insects, they have not explicitly examined the population dynamics of mutualist symbiont infection within populations. In the pea aphid, Acyrthosiphon pisum, the inherited facultative symbiont, Hamiltonella defensa, provides protection against parasitism by the wasp, Aphidius ervi. Despite a high fidelity of vertical transmission and direct benefits of infection accruing to parasitized aphids, Hamiltonella remains only at intermediate frequencies in natural populations. Here, we conducted population cage experiments to monitor the dynamics of Hamiltonella and of another common A. pisum symbiont, Serratia symbiotica, in the presence and absence of parasitism. We also conducted fitness assays of Hamiltonella-infected aphids to search for costs to infection in the absence of parasitism. In the population cages, we found that the frequency of A. pisum infected with Hamiltonella increased dramatically after repeated exposure to parasitism by A. ervi, indicating that selection pressures from natural enemies can lead to the increase of particular inherited symbionts in insect populations. In our laboratory fitness assays, we did not detect a cost to infection with Hamiltonella, but in the population cages not exposed to parasitism, we found a significant decline in the frequency of both Hamiltonella and Serratia. The declining frequencies of Hamiltonella-infected aphids in population cages in the absence of parasitism indicate a probable cost to infection and may explain why Hamiltonella remains at intermediate frequencies in natural populations.