Syllabus: Paper I > Prehistoric Archaeology > Lower Palaeolithic > Oldowan and Acheulian traditions
Single-Gene Mutation Disorders in Man — 2024 Paper I
Question · 2024 · Paper I · 10 Marks
Single-gene mutation disorders in man
Model Answer
VAID ICSSingle-gene or monogenic disorders result from a pathogenic mutation at one gene locus. They usually follow Mendelian inheritance, although penetrance, expressivity and environmental factors may modify their clinical manifestation. Mutations may involve base substitution, deletion, insertion, abnormal splicing or repeat expansion.
They are classified according to their mode of inheritance:
- Autosomal dominant: One altered allele is sufficient. Huntington disease results from CAG-repeat expansion in the HTT gene and shows anticipation. Achondroplasia and Marfan syndrome are other examples.
- Autosomal recessive: The disorder appears when both alleles are altered. Cystic fibrosis is caused by CFTR mutations, while phenylketonuria results from deficiency of phenylalanine hydroxylase.
- X-linked recessive: These conditions occur predominantly in males. Haemophilia A, caused by mutation in the F8 gene, and Duchenne muscular dystrophy are important examples.
- Mitochondrial disorders: These are transmitted maternally, as in Leber hereditary optic neuropathy.
Sickle-cell disease is a classic anthropological example. A missense mutation in the HBB gene replaces glutamic acid with valine in beta-globin, producing haemoglobin S. In malaria-endemic regions, heterozygotes possess a selective advantage against severe malaria. This balanced polymorphism, anticipated by J.B.S. Haldane and demonstrated by A.C. Allison, illustrates the interaction of mutation, natural selection and ecology.
Their population frequency may also be influenced by endogamy, consanguinity, founder effect and genetic drift. Diagnosis involves pedigree analysis, biochemical tests and molecular testing, while genetic counselling, carrier screening and prenatal diagnosis help families make informed decisions.
Thus, monogenic disorders connect molecular genetics with human evolution, population structure and medical anthropology.
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UPSC Anthropology Optional 2024 — Paper I
28 questionsSyllabus: Paper I > Applications of Anthropology > Forensic Anthropology > Applications and personal identification
1(a) Attributes of culture
10 Marks150 words
Syllabus: Paper I > Nature of Culture > Characteristics of Culture > Attributes of culture
5(d) Authority and forms of political organization
10 Marks150 words
Syllabus: Paper I > Political Organization and Social Control > Power, Authority and Legitimacy > Band, tribe, chiefdom, state
1(c) Critical perspective on avoidance and joking relationship
10 Marks150 words
Syllabus: Paper I > Kinship > Kinship Behaviour > Avoidance and joking relationships
5(a) Chronometric dating
10 Marks150 words
Syllabus: Paper I > Prehistoric Archaeology > Chronology and Dating > Chronometric (absolute) dating methods
Syllabus: Paper I > Research Methods > Fieldwork Tradition > Contemporary challenges in fieldwork
5(b) Cultural relevance of the Kula
10 Marks150 words
Syllabus: Paper I > Economic Organization > Reciprocity and Exchange > Kula ring
Syllabus: Paper I > Anthropological Theories > Post-Modernism > Deconstruction; Derrida
Syllabus: Paper I > Prehistoric Archaeology > Neolithic > Origin of food production; domestication; Mehrgarh
Syllabus: Paper I > Applications of Anthropology > Applied Human Genetics > Genetic counselling
Syllabus: Paper I > Human Genetics > Blood Group Systems > ABO and Rh inheritance
Syllabus: Paper I > Human Evolution > Fossil Hominids > Homo erectus: distribution and phylogenetic status
1(b) Harappan maritime trade
10 Marks150 words
Syllabus: Paper I > Prehistoric Archaeology > Chalcolithic and Bronze Age > Harappan civilization; maritime trade
1(e) Hemoglobin in health and disease
10 Marks150 words
Syllabus: Paper I > Human Genetics > Genetic Polymorphism > Haemoglobinopathies; health and disease
5(c) Heritability and its estimation
10 Marks150 words
Syllabus: Paper I > Human Genetics > Quantitative Genetics > Heritability and its estimation
2(a) Discuss historical particularism as a critical development to the classical evolutionism.
20 Marks
Syllabus: Paper I > Anthropological Theories > Historical Particularism > Critique of classical evolutionism
Syllabus: Paper I > Human Genetics > Chromosomes and Chromosomal Aberrations > Karyotyping
1(d) Lethal and sublethal genes
10 Marks150 words
Syllabus: Paper I > Human Genetics > Mendelian Genetics in Man > Lethal and sublethal genes
Syllabus: Paper I > Anthropological Theories > Structuralism > Levi-Strauss; myth analysis; Asdiwal
Syllabus: Paper I > Human Biology > Epidemiological and Nutritional Anthropology > Lifestyle diseases
Syllabus: Paper I > Human Genetics > Quantitative Genetics > Multifactorial inheritance
Syllabus: Paper I > Anthropological Theories > Culture and Personality > Ruth Benedict; configurational approach
Syllabus: Paper I > Research Methods > Tools of Data Collection > Sampling techniques
5(e) Single-gene mutation disorders in man
10 Marks150 words
Syllabus: Paper I > Human Genetics > Mutation and Genetic Disorders > Single-gene disorders
Syllabus: Paper I > Nature of Society > Social Groups, Status and Role > Social stratification and inequality
Syllabus: Paper I > Human Evolution > Biological and Cultural Factors > Bio-cultural synergy in human evolution
Syllabus: Paper I > Family > Impact of Change on Family > Urbanisation and the family