scholarly journals Heterozygosity and Fixation Index for ABO Gene in Barak Valley Populations vis-a-vis a Few Exotic Populations

2011 ◽  
Vol 3 (1) ◽  
pp. 07-11 ◽  
Author(s):  
Supriyo CHAKRABORTY
Keyword(s):  
Genetic Variation ◽  
South China ◽  
Genetic Diseases ◽  
Genetic Load ◽  
Fixation Index ◽  
Human Populations ◽  
Barak Valley ◽  
Evolutionary Context ◽  
Recessive Genes ◽  
The Cost

In a genetic study of 26 human populations including 2 major endogamous populations (Hindus and Muslims) of Barak Valley in Assam and 24 exotic populations, observed heterozygosity (Ho), fixation index (F) and Panmictic index (P) for ABO gene were estimated from gene frequency data to reveal the extent of inbreeding that has taken place in each population during evolution. Observed heterozygosity, a measure of genetic variation, ranged from 0.3254 to 0.6086 in these populations. Expected Hardy-Weinberg heterozygosity of ABO gene was estimated as 0.6666 assuming the occurrence of all the three alleles in equal frequency. Fixation index was the highest in the population of Sudan (51.18%) followed by Australia (48.51%) and Iceland (38.28%) indicating the occurrence of high inbreeding and the presence of more homozygosity in these populations during evolution. But the fixation index was the lowest in the population of South China (8.70%) followed by Central Asia (11.82%) and Russia (12.96%). It suggested the occurrence of low inbreeding and hence more outbreeding in these populations resulting in the existence of more heterozygosity (high genetic variation) in these populations. Panmictic index, a measure of outbreeding, is the opposite of fixation index and it varied from 48.82 (Sudan) to 91.30% (South China). The population showing the highest fixation index recorded the lowest panmictic index and vice-versa. In evolutionary context, outbreeding in human populations would be more desirable to reduce the incidence of genetic diseases caused by recessive genes and to enhance heterozygosity for those loci for better adaptation of future generations, possibly at the cost of gradually increasing genetic load in the population.

THE EFFECT OF CONSANGUINITY ON CONGENITAL DISABILITIES IN THE KUWAITI POPULATION

2010 ◽  
Vol 43 (1) ◽  
pp. 65-73 ◽  
Author(s):  
YAGOUB Y. AL-KANDARI ◽  
DOUGLAS E. CREWS
Keyword(s):  
Health Care ◽  
Genetic Variation ◽  
Genetic Disorders ◽  
Genetic Diseases ◽  
Consanguineous Marriages ◽  
Primary Health ◽  
Chi Squared ◽  
Recessive Genes ◽  
Kuwaiti Population ◽  
Congenital Disabilities

SummaryConsanguinity has been shown to increase homozygosity and to reduce genetic variation in a group, which may protect against the expression of recessive genes that can lead to genetic disorders. Consanguineous marriages are practised widely in Kuwait. The major aim of this study is to delineate the association of consanguineous marriages with congenital disabilities in different Kuwaiti population subcultures. A total of 9104 married Kuwaiti females aged 15–79 years from different backgrounds were selected at ten primary health care centres from six governorates in Kuwait. Data were collected using a questionnaire and analysed with chi-squared tests. The data indicate significant differences in the occurrence of genetic diseases in consanguineous couples' offspring (4.88%) compared with those of non-consanguineous couples (4.13%) (p<0.002). The results also show significant differences in frequencies of genetic/environmental diseases in consanguineous couples' offspring (8.59%) compared with those of non-consanguineous couples (8.23%) (p<0.005). No significant differences between the two groups regarding environmental diseases were observed. A higher frequency of genetic diseases was found in first- (6.97%; p<0.001), second- (6.78%; p<0.001) and third-cousin (6.46%; p<0.022) couples' offspring compared with those of non-consanguineous couples. The frequency of congenital disabilities in the offspring of couples from consanguineous marriages (2.9%) is higher than that in the offspring of non-consanguineous marriages (2.3%). But this difference is not significant at the 0.05 level. First-cousin marriages have the highest frequency (3.5%) of congenital disabilities compared with other kinds of marriages (2.1–2.3%). Differences across groups are significant (p<0.036). Significant differences are found for first-cousin couples in both physical (2.37; p<0.042) and mental (0.74; p<0.037) disabilities compared with non-consanguineous couples. No significant differences were observed in deafness and blindness disabilities. The data show no significant differences between second- and third-cousin and non-consanguineous couples in physical, mental or deafness and blindness disabilities. There are no significant differences in the percentages of offspring with congenital disabilities in consanguineous and non-consanguineous marriages across sub-population groups for the total of four types of congenital disability.

Genetic Engineering of AAV Capsid Gene for Gene Therapy Application

2020 ◽  
Vol 20 (5) ◽  
pp. 321-332
Author(s):  
Yunbo Liu ◽  
Xu Zhang ◽  
Lin Yang
Keyword(s):  
Gene Therapy ◽  
Neutralizing Antibodies ◽  
Human Subjects ◽  
Genetic Diseases ◽  
Capsid Gene ◽  
Human Populations ◽  
Stable Gene ◽  
Efficient Gene ◽  
Gene Therapy Application

Adeno-associated virus (AAV) is a promising vector for in vivo gene therapy because of its excellent safety profile and ability to mediate stable gene expression in human subjects. However, there are still numerous challenges that need to be resolved before this gene delivery vehicle is used in clinical applications, such as the inability of AAV to effectively target specific tissues, preexisting neutralizing antibodies in human populations, and a limited AAV packaging capacity. Over the past two decades, much genetic modification work has been performed with the AAV capsid gene, resulting in a large number of variants with modified characteristics, rendering AAV a versatile vector for more efficient gene therapy applications for different genetic diseases.

scholarly journals Genomic Analyses of Globodera pallida, A Quarantine Agricultural Pathogen in Idaho

Pathogens ◽  
2021 ◽  
Vol 10 (3) ◽  
pp. 363
Author(s):  
Sulochana K. Wasala ◽  
Dana K. Howe ◽  
Louise-Marie Dandurand ◽  
Inga A. Zasada ◽  
Dee R. Denver
Keyword(s):  
Genetic Variation ◽  
Potato Production ◽  
Globodera Pallida ◽  
Fixation Index ◽  
Parasitic Nematodes ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genome Wide ◽  
Field Samples ◽  
Multiple Introduction

Globodera pallida is among the most significant plant-parasitic nematodes worldwide, causing major damage to potato production. Since it was discovered in Idaho in 2006, eradication efforts have aimed to contain and eradicate G. pallida through phytosanitary action and soil fumigation. In this study, we investigated genome-wide patterns of G. pallida genetic variation across Idaho fields to evaluate whether the infestation resulted from a single or multiple introduction(s) and to investigate potential evolutionary responses since the time of infestation. A total of 53 G. pallida samples (~1,042,000 individuals) were collected and analyzed, representing five different fields in Idaho, a greenhouse population, and a field in Scotland that was used for external comparison. According to genome-wide allele frequency and fixation index (Fst) analyses, most of the genetic variation was shared among the G. pallida populations in Idaho fields pre-fumigation, indicating that the infestation likely resulted from a single introduction. Temporal patterns of genome-wide polymorphisms involving (1) pre-fumigation field samples collected in 2007 and 2014 and (2) pre- and post-fumigation samples revealed nucleotide variants (SNPs, single-nucleotide polymorphisms) with significantly differentiated allele frequencies indicating genetic differentiation. This study provides insights into the genetic origins and adaptive potential of G. pallida invading new environments.

scholarly journals Dynamics of natural selection in two generations (on the example of the population of the Kirovograd region)

2021 ◽  
Vol 29 ◽  
pp. 152-156
Author(s):  
K. K. Kovleva ◽  
N.A. Kozak
Keyword(s):  
Natural Selection ◽  
First Generation ◽  
Second Generation ◽  
Selection Index ◽  
Genetic Load ◽  
Modern Medicine ◽  
Reproductive Age ◽  
Human Populations ◽  
Medical Histories ◽  
Total Selection

Aim. In connection with the success of modern medicine, the pressure of natural selection in various civilized human populations is weakening, which leads to the accumulation of a genetic load. The purpose of this work was to trace the change in the intensity of natural selection among population of the Kirovograd region in two successive generations. Methods. The collection of material was carried out in 2020 and 2021. Anonymous questionnaires were conducted and medical histories of women of post-reproductive age of the Kirovograd region were studied. The first generation included 40 women born in 1937–1959; the second generation consists of 273 women born in 1960–1981. Results. The total selection index was 0.27 in the first generation, and 0.37 in the second generation. The percentage of women who have not had pregnancies increased from the first generation to the second from 2.5 to 3.7, respectively. Conclusions. The index of total selection in the Kirovograd region population for one generation increased by almost one and a half times (from 0.27 to 0.37), as well as the index of differential fertility (from 0.25 to 0.35). Keywords: reproductive characteristics, Kirovograd population, Crow's index, selection, generations.

scholarly journals Genomic and demographic processes differentially influence genetic variation across the X chromosome

2021 ◽  
Author(s):  
Daniel J. Cotter ◽  
Timothy H. Webster ◽  
Melissa A. Wilson
Keyword(s):  
Genetic Diversity ◽  
Genetic Variation ◽  
Linkage Disequilibrium ◽  
X Chromosome ◽  
Global Scale ◽  
Careful Consideration ◽  
Human Populations ◽  
Evolutionary Forces ◽  
Ideal System ◽  
Demographic Patterns

AbstractMutation, recombination, selection, and demography affect genetic variation across the genome. Increased mutation and recombination both lead to increases in genetic diversity in a region-specific manner, while complex demographic patterns shape patterns of diversity on a more global scale. The X chromosome is particularly interesting because it contains several distinct regions that are subject to different combinations and strengths of these processes, notably the pseudoautosomal regions (PARs) and the X-transposed region (XTR). The X chromosome thus can serve as a unique model for studying how genetic and demographic forces act in different contexts to shape patterns of observed variation. Here we investigate diversity, divergence, and linkage disequilibrium in each region of the X chromosome using genomic data from 26 human populations. We find that both diversity and substitution rate are consistently elevated in PAR1 and the XTR compared to the rest of the X chromosome. In contrast, linkage disequilibrium is lowest in PAR1 and highest on the non-recombining X chromosome, with the XTR falling in between, suggesting that the XTR (usually included in the non-recombining X) may need to be considered separately in future studies. We also observed strong population-specific effects on genetic diversity; not only does genetic variation differ on the X and autosomes among populations, but the effects of linked selection on the X relative to autosomes have been shaped by population-specific history. The substantial variation in patterns of variation across these regions provides insight into the unique evolutionary history contained within the X chromosome.Significance StatementDemography and selection affect the X chromosome differently from non-sex chromosomes. However, the X chromosome can be subdivided into multiple distinct regions that facilitate even more fine-scaled assessment of these processes. Here we study regions of the human X chromosome in 26 populations to find evidence that recombination may be mutagenic in humans and that the X-transposed region may undergo recombination. Further we observe that the effects of selection and demography act differently on the X chromosome relative to the autosomes across human populations. Together, our results highlight profound regional differences across the X chromosome, simultaneously making it an ideal system for exploring the action of evolutionary forces as well as necessitating its careful consideration and treatment in genomic analyses.

scholarly journals CRISPR Gene-Editing Models Geared Toward Therapy for Hereditary and Developmental Neurological Disorders

2021 ◽  
Vol 9 ◽  
Author(s):  
Poh Kuan Wong ◽  
Fook Choe Cheah ◽  
Saiful Effendi Syafruddin ◽  
M. Aiman Mohtar ◽  
Norazrina Azmi ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Neurological Disorders ◽  
Gene Editing ◽  
Fragile X ◽  
Genetic Diseases ◽  
Basic Principles ◽  
Short Palindromic Repeat

Hereditary or developmental neurological disorders (HNDs or DNDs) affect the quality of life and contribute to the high mortality rates among neonates. Most HNDs are incurable, and the search for new and effective treatments is hampered by challenges peculiar to the human brain, which is guarded by the near-impervious blood-brain barrier. Clustered Regularly Interspaced Short Palindromic Repeat (CRISPR), a gene-editing tool repurposed from bacterial defense systems against viruses, has been touted by some as a panacea for genetic diseases. CRISPR has expedited the research into HNDs, enabling the generation of in vitro and in vivo models to simulate the changes in human physiology caused by genetic variation. In this review, we describe the basic principles and workings of CRISPR and the modifications that have been made to broaden its applications. Then, we review important CRISPR-based studies that have opened new doors to the treatment of HNDs such as fragile X syndrome and Down syndrome. We also discuss how CRISPR can be used to generate research models to examine the effects of genetic variation and caffeine therapy on the developing brain. Several drawbacks of CRISPR may preclude its use at the clinics, particularly the vulnerability of neuronal cells to the adverse effect of gene editing, and the inefficiency of CRISPR delivery into the brain. In concluding the review, we offer some suggestions for enhancing the gene-editing efficacy of CRISPR and how it may be morphed into safe and effective therapy for HNDs and other brain disorders.

scholarly journals Human enhancement

2019 ◽  
Vol 2019 (1) ◽  
pp. 183-189 ◽  
Author(s):  
Mara Almeida ◽  
Rui Diogo
Keyword(s):  
Natural Environment ◽  
Evolutionary Biology ◽  
Human Enhancement ◽  
Genetic Enhancement ◽  
Human Biology ◽  
Human Populations ◽  
Genetic Intervention ◽  
Biomedical Enhancement ◽  
Open Questions ◽  
Evolutionary Context

Abstract Genetic engineering opens new possibilities for biomedical enhancement requiring ethical, societal and practical considerations to evaluate its implications for human biology, human evolution and our natural environment. In this Commentary, we consider human enhancement, and in particular, we explore genetic enhancement in an evolutionary context. In summarizing key open questions, we highlight the importance of acknowledging multiple effects (pleiotropy) and complex epigenetic interactions among genotype, phenotype and ecology, and the need to consider the unit of impact not only to the human body but also to human populations and their natural environment (systems biology). We also propose that a practicable distinction between ‘therapy’ and ‘enhancement’ may need to be drawn and effectively implemented in future regulations. Overall, we suggest that it is essential for ethical, philosophical and policy discussions on human enhancement to consider the empirical evidence provided by evolutionary biology, developmental biology and other disciplines. Lay Summary: This Commentary explores genetic enhancement in an evolutionary context. We highlight the multiple effects associated with germline heritable genetic intervention, the need to consider the unit of impact to human populations and their natural environment, and propose that a practicable distinction between ‘therapy’ and ‘enhancement’ is needed.

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