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Phylogeny of Normal and Abnormal Hemoglobin Genes
Published in S. K. Dutta, DNA Systematics, 2019
The second major mechanism which can account for the distribution of abnormal hemoglobins is chance alone. This takes two closely related forms: drift in which a gene “piggybacks” on another upon which selection is acting and founder effect in which genes present by chance alone in a small population make a major contribution to the gene pool when the population expands. Both of these mechanisms are represented among the abnormal hemoglobin.
‘Race’, ethnicity, poverty and child health
Published in Nick Spencer, Sir Donald Acheson, Poverty and Child Health, 2018
Nick Spencer, Sir Donald Acheson
The variation in gene frequency between populations as well as the extent of common genes is understandable given that human history is one of migration.4 Even before the ‘shrinking’ of the world in the second part of the 20th century associated with greatly facilitated world travel, migrations had been the norm rather than the exception, and concepts of ‘racial purity’ or even a common ‘racial identity’ become meaningless when examined against these patterns of migration. An inevitable consequence of migration is the mixing and change of gene pools and a consequent change in the patterns of gene variation in both the migrant and host populations.
Women, poverty and childbirth
Published in Chang Amy, Caroline Squire, The Social Context of Birth, 2017
Squire Caroline, Beverley Kate H
How can differences in life outcomes among people living in a society be understood and explained? Is it a matter of genetics and biology, consistent with Darwin’s ‘Theory of Natural Selection’, where all species, including humankind, evolve and refine themselves through a process that guarantees the survival of the fittest; where the weak and flawed who cannot ‘keep up’ simply die off, incrementally creating a gene pool that grows stronger and healthier in the course of successive generations? Such an approach arguably presents a rather gloomy view of human life, suggesting, as it does, that there is little to be done to improve the life circumstances and health chances of the members of human societies. Poverty would, in this view, be considered as a ‘fault’ located within the poor person, attributable to some moral or genetic flaw. Either way, the cause of poverty would be seen as resting with the individual.
Genomic diversity and differentiation of Alu insertion polymorphisms in a native British and four South Asian migrant populations
Published in Annals of Human Biology, 2023
Rebekah Beaumont, Liz Akam, Puneetpal Singh, Jasvinder Singh Bhatti, Sarabjit Mastana
This is the first study to analyse a large battery of Alu polymorphisms (39) to assess genetic composition and population relationships among a British White and four migrant South Asian populations in the East Midlands region of the UK. Similarities in allele frequencies in migrant South Asian samples indicated a strong common genetic heritage, ancestry, and differing levels of endogamy. This investigation emphasised the importance of understanding population similarities and differences and the effect of different religious traditions on genetic composition (Laybourn et al. 2016). The results from this study supported those of other Alu and other genetic polymorphisms (STRs, SNPs), demonstrating the significant genetic variation between South Asian subpopulations and British samples. The process of South Asian groups migrating to Europe promotes genetic drift, which reduces the gene pool size and risks the possibility of certain Alus being lost (Wang et al. 1998). Analysed Alus had a high level of discrimination, therefore these could be effective loci in analysing the genetic variation among individuals and populations. Analysis of roughly 50 Alus has been shown to provide the most accurate genetic estimates (Watkins et al. 2003). Many of the loci included in this dataset are widely under-studied. Therefore, more research is needed to address the usefulness of Alus in population genomics.
Evaluation of genetic polymorphisms at 21 autosomal STR loci in Ramgharia Sikh population of Punjab, India
Published in Annals of Human Biology, 2022
Amandeep Kaur Bhambara, Abhishek Singh, Vivek Sahajpal, Mukesh Thakur, Deepika Bhandari, Shivkant Sharma, Mukesh Kumar Thakar
India, being a diverse country with an accounted population of about 1.2 billion (Census of India, 2011), portrays a significantly colourful canvas comprising of novel assimilation of various ethnic groups differing in terms of their communities, cultures, and religions. Several researchers and philosophers have been engrossed for centuries in studying the diverse patterns regarding human appearances and forms. The genetic variation among human populations was first reported in 1919 by Ludwik and Hanka Hirszfeld, pioneers in the field of blood typing (Allan 1963). However, the variations studied in blood groups were not sufficient to identify a particular individual from a gene pool. Thus, this area of interest was revolutionised by detecting variations in the human gene pool at the DNA level (Kandpal et al. 2011). In the early days, RFLP (Restriction Fragment Length Polymorphism) analysis was employed for DNA analysis followed by the PCR-based assays e.g. SNPs, VNTRs, and Short Tandem Repeats (STRs). By the mid-1990s, forensic DNA testing introduced multiple STR markers in single multiplexed reactions (Gusmão et al. 2006).
Frequency of HLA Class I and Class II Alleles in Patients with CVID from Turkey
Published in Immunological Investigations, 2021
Begum Ozbek, Cagman Tan, Ismail Yaz, Can Kosukcu, Saliha Esenboga, Pınar Gur Cetinkaya, Deniz Cagdas, Ilhan Tezcan
In conclusion, we defined seven alleles that may be associated with CVID. Association of two of these alleles with CVID has been previously reported in the literature (B*35 and DRB1*04). In addition, three alleles which are considered as ‘protective alleles’ have been reported in this study. In different ethnic groups, the cause of disease association with different alleles may be explained by the diversity in gene pools between the populations. The data obtained in this study support that HLA alleles, as genetic factors, may contribute to susceptibility to CVID and also provides information related to the genetic basis of the disease. As a result, the association of HLA loci with CVID may indicate genetic predisposition and give clues in terms of possible complications and follow up of the patients.