p1 pyq from 86 - genetic Flashcards
(193 cards)
1. Pedigree analysis in genetic counselling (2022)
Pedigree analysis in genetic counseling involves mapping a family’s genetic history to identify patterns of inheritance for specific traits or disorders. It helps in understanding the genetic risks, advising on potential health concerns, and making informed decisions regarding reproduction. By analyzing the pedigrees, counselors can identify carriers, predict the likelihood of genetic conditions in future generations, and provide guidance on preventive measures and management strategies. Pedigree charts are crucial for diagnosing inherited conditions and offering tailored genetic advice.
2. Briefly describe the various methods used in the genetic study of man (20 M, 2017)
Methods in genetic studies include pedigree analysis for tracing inheritance patterns, twin studies to differentiate genetic from environmental influences, population genetics to study allele frequencies and evolutionary forces, cytogenetics for chromosomal abnormalities, molecular genetics for DNA sequencing and gene identification, genome-wide association studies (GWAS) to identify genetic variations linked to traits, and epigenetics to explore gene expression regulation. These methods provide comprehensive insights into genetic mechanisms, inheritance, and the role of genetics in health and disease.
3. Twin method in human genetics (10Marks 2013)
The twin method involves studying monozygotic (identical) and dizygotic (fraternal) twins to understand the genetic and environmental influences on traits. Monozygotic twins share all their genes, while dizygotic twins share about 50%. By comparing trait concordance rates between the two types of twins, researchers can estimate heritability. The twin method helps disentangle nature versus nurture debates, providing insights into genetic predispositions and environmental impacts on traits such as intelligence, behavior, and diseases.
4. What do you understand by Immunogenetics? Explain with suitable examples (15Marks 2015)
Immunogenetics studies the genetic basis of immune system function. It explores how genetic variations influence immune responses and susceptibility to diseases. For example, the HLA (Human Leukocyte Antigen) genes play a crucial role in immune recognition and organ transplantation compatibility. Genetic mutations in BRCA1/BRCA2 can affect the immune system’s ability to repair DNA, increasing cancer risk. Immunogenetics helps understand autoimmune diseases, vaccine responses, and the development of personalized medicine.
5. Anthropological relevance of population genetics (20 Marks — 2009)
Population genetics is vital in anthropology for studying genetic variation within and between human populations, shedding light on human evolution, migration patterns, and adaptation. It helps trace ancestry, understand genetic diversity, and identify evolutionary forces like natural selection, genetic drift, and gene flow. Techniques like haplogroup analysis and allele frequency studies reveal insights into population history and structure. Population genetics bridges the gap between genetics and anthropology, providing a genetic perspective on human cultural and biological evolution.
6. Thrifty genotype (20 Marks — 2009)
The “thrifty genotype” hypothesis suggests that certain genetic traits, advantageous in ancient times for efficient energy storage and utilization during food scarcity, predispose modern individuals to metabolic diseases like obesity and diabetes in environments with abundant food. Genes promoting fat storage and insulin resistance were beneficial for survival in hunter-gatherer societies but have become detrimental in sedentary lifestyles with high-calorie diets. Understanding the thrifty genotype aids in addressing metabolic health issues and developing preventive strategies.
7. Pedigree Analysis (2007)
Pedigree analysis involves creating a family tree that traces the inheritance of specific traits or genetic disorders. It helps identify carriers, affected individuals, and inheritance patterns (e.g., autosomal dominant, autosomal recessive, X-linked). This method is crucial in genetic counseling to predict genetic risks, provide diagnostic insights, and guide decisions on genetic testing and family planning. Pedigree charts offer a visual representation of genetic relationships and help assess the likelihood of passing genetic conditions to offspring.
8. Genome Study (2007)
Genome studies involve analyzing the complete set of an organism’s DNA, including all of its genes. Techniques like whole-genome sequencing and genome-wide association studies (GWAS) identify genetic variations linked to diseases, traits, and evolutionary history. Genome studies provide insights into gene function, genetic diversity, and the molecular basis of traits and diseases. They contribute to personalized medicine, evolutionary biology, and understanding the genetic architecture of complex traits, offering a comprehensive view of genetic information.
9. Discuss the areas in which the knowledge of human genetics can be applied (2004)
Human genetics knowledge applies to various fields: medicine (diagnosing genetic disorders, developing gene therapies), forensics (DNA profiling for identification), anthropology (studying human evolution and population genetics), agriculture (improving crop and livestock breeds), public health (understanding genetic predispositions to diseases), pharmacogenomics (personalizing drug treatments based on genetic profiles), and genetic counseling (advising on genetic risks and family planning). Genetics also informs ethical, legal, and social issues related to genetic information use.
10. Discuss the role of twins in nature – nurture problems and illustrate your answer with suitable examples (1999)
Twins play a crucial role in studying the nature versus nurture debate by allowing comparisons between monozygotic (identical) and dizygotic (fraternal) twins. For example, studies on twins raised apart can reveal the extent of genetic influence on traits like intelligence, personality, and susceptibility to diseases. Higher concordance rates in monozygotic twins suggest genetic factors, while differences highlight environmental influences. Twin studies help disentangle the complex interactions between genetics and environment in shaping human behavior and development.
11. Define twins. Describe the methods of diagnosis of twins. In what way are twins useful in the study of human genetics? (1998)
Twins are individuals born from the same pregnancy. Monozygotic twins arise from a single fertilized egg splitting into two embryos, sharing identical genetic material. Dizygotic twins result from two separate eggs fertilized by different sperm, sharing about 50% of their genes. Methods for diagnosing twins include ultrasound imaging and chorionicity assessment. Twins are useful in genetic studies by providing natural experiments to separate genetic and environmental influences, allowing researchers to estimate heritability and understand genetic contributions to traits and diseases.
1. What assumptions must be met for a population to be in genetic equilibrium? Explain the importance of genetic equilibrium. (15M, 2023)
For a population to be in genetic equilibrium, the Hardy-Weinberg assumptions must be met: 1) large population size (no genetic drift), 2) no mutation, 3) no migration (no gene flow), 4) random mating, and 5) no natural selection. Genetic equilibrium is important as it provides a baseline to detect evolutionary forces at work, such as selection, drift, or gene flow. It serves as a null model to measure deviations, which indicate the presence of evolutionary processes shaping genetic variation in populations.
2. Balanced and transient genetic polymorphism. (10M, 2022)
Balanced genetic polymorphism refers to the stable coexistence of multiple alleles at a locus due to selective advantages, such as in heterozygote advantage (e.g., sickle cell trait). Transient genetic polymorphism is temporary, where allele frequencies change over time and one allele eventually becomes fixed or lost. An example is the transient presence of a beneficial mutation spreading through a population until it becomes fixed. Balanced polymorphisms maintain genetic diversity, whereas transient polymorphisms reflect ongoing evolutionary changes.
3. Discuss the role of evolutionary forces in creating human diversity. (20M, 2022)
Evolutionary forces shaping human diversity include: 1) Mutation, introducing new genetic variations. 2) Natural selection, favoring advantageous traits, leading to adaptation. 3) Genetic drift, causing random changes in allele frequencies, especially in small populations. 4) Gene flow, mixing genetic material between populations through migration. 5) Non-random mating, influencing allele distribution. These forces interact, producing the genetic variation and adaptability seen in human populations, contributing to diverse phenotypes and genetic traits.
4. Genetic drift. (10M, 2020)
Genetic drift is the random fluctuation of allele frequencies in a population, more pronounced in small populations. It leads to the loss or fixation of alleles, reducing genetic variation and potentially impacting population fitness. Drift can result from events like bottlenecks (drastic population size reduction) or founder effects (new population established by a small number of individuals). Unlike natural selection, genetic drift is random and does not necessarily favor advantageous traits.
5. How do marriage rules impact the gene pool of populations? (15M, 2020)
Marriage rules, such as endogamy (marrying within a group) and exogamy (marrying outside the group), significantly affect gene pools. Endogamy increases genetic homogeneity and the likelihood of inherited disorders due to increased homozygosity. Exogamy promotes genetic diversity by introducing new alleles. Rules like consanguinity (marriage between relatives) can lead to higher frequencies of recessive genetic disorders. Social practices influence allele distribution, shaping population genetic structure and health.
6. Differentiate between transient and balanced genetic polymorphisms. Illustrate your answer with suitable examples from human populations. (15M, 2019)
Transient polymorphism involves temporary allele frequency changes until one allele becomes fixed or lost (e.g., a new advantageous mutation spreading). Balanced polymorphism maintains multiple alleles at stable frequencies due to selective advantages (e.g., sickle cell trait, where heterozygotes have malaria resistance). Transient polymorphisms reflect ongoing evolutionary changes, while balanced polymorphisms sustain genetic diversity within populations.
7. Implications of mutation in evolution. (10M, 2019)
Mutations introduce new genetic variations, serving as the raw material for evolution. Beneficial mutations can be favored by natural selection, leading to adaptation. Harmful mutations may be eliminated, while neutral mutations can accumulate as genetic drift. Mutations drive evolutionary change by providing diversity for selection to act upon, influencing species’ ability to adapt to changing environments and potentially leading to the emergence of new species.
8. Hardy-Weinberg Law. (10M, 2017)
The Hardy-Weinberg Law states that allele and genotype frequencies in a large, randomly mating population remain constant from generation to generation in the absence of evolutionary forces (mutation, selection, gene flow, genetic drift). It is expressed as (p^2 + 2pq + q^2 = 1), where (p) and (q) are allele frequencies. This principle serves as a null model to study genetic variations and deviations, indicating evolutionary influences.
9. Define Genetic polymorphism. Give details of its types with suitable examples. (15M, 2015)
Genetic polymorphism refers to the existence of two or more alleles at a locus in a population. Types include balanced polymorphism (e.g., sickle cell trait with malaria resistance) and transient polymorphism (e.g., new beneficial mutations spreading). Polymorphisms contribute to genetic diversity and adaptation, influencing traits like blood type (ABO system) and disease susceptibility.
10. Discuss the factors affecting gene frequencies among human populations. (20M, 2014)
Factors include: 1) Mutation - introduces new alleles. 2) Natural selection - favors advantageous alleles. 3) Genetic drift - causes random allele frequency changes, especially in small populations. 4) Gene flow - introduces alleles from other populations. 5) Non-random mating - affects allele distribution. 6) Population size - larger populations buffer against drift. 7) Cultural practices - influence mating patterns and gene flow. These factors interact, shaping genetic diversity and evolution in human populations.
11. What do you understand by ‘Genetic Load’ in a population? How is it measured and what are the important factors that can influence it? (15M, 2013)
Genetic load is the presence of deleterious alleles in a population, reducing average fitness. It is measured by comparing the fitness of a population with an ideal, mutation-free population. Factors influencing genetic load include mutation rate, selection pressure, genetic drift, and gene flow. High genetic load can lead to increased susceptibility to diseases and reduced overall health, impacting population survival and adaptation.
12. What are the genetic effects of Consanguinity? Give examples? (20M, 2012)
Consanguinity (marriage between relatives) increases homozygosity, leading to higher chances of recessive genetic disorders. Examples include higher rates of cystic fibrosis, Tay-Sachs disease, and sickle cell anemia in populations with prevalent consanguineous marriages. It also increases the likelihood of inherited metabolic disorders and congenital anomalies. While consanguinity can perpetuate genetic diseases, it can also maintain beneficial traits in small, isolated populations.