Biology
Human Genetics and Disorders
882 Questions
Human Genetics and Disorders covers the inheritance patterns, genetic mutations, and molecular basis of hereditary diseases. Topics include sex-linked traits, cancer genetics, and metabolic disorders. This section tests knowledge critical for biology exams and general science papers.
Genetic mutationsInherited disordersCancer geneticsGenetic testingMendelian inheritance
Human Genetics and Disorders Questions
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A gene in which mutation occurs
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A gene whose phenotype remains unaltered
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A gene whose genotype is altered or suppressed
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A gene whose phenotype is altered or suppressed
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None of these
D
Correct answer
Explanation
A hypostatic gene is a gene whose phenotype is altered or suppressed.
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Partial lipodystrophy
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Type II membranoproliferative glomerulonephritis (MPGN II)
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Hypocomplementemic urticarial vasculitis syndrome (HUVS)
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Systemic lupus erythematosus (SLE)
C
Correct answer
Explanation
Hypocomplementemic urticarial vasculitis syndrome (HUVS) (also called SLE-related syndrome or chronic hypocomplementemic cutaneous vasculitis) is a disorder associated with anti-C1q antibodies that leads to classical pathway activation and chronic decreases in C1, C2, C4 and C3 levels.
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Marasmus
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Pellagra
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Night blindness
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Galactosemia
D
Correct answer
Explanation
Galactosemia is an inborn error of metabolism inherited as an autosomal recessive trait.
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mother only
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father only
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both the parents
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None of these
C
Correct answer
Explanation
Tay-Sachï؟½s is an inherited disease. It results when a child receives two defective genes, one from each parent.
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a recessive allele in homozygous condition
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a dominant allele in homozygous condition
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Both (A) and (B)
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None of these
A
Correct answer
Explanation
In human beings a few lethal genes are known which are associated with fatal 'Infantile amourotic idiocy' disease, and is caused by recessive allele in homozygous condition.
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ABCC6
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CDAN1
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CDC6
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CDC73
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G0s2
E
Correct answer
Explanation
G0/G1 switch gene 2 (G0s2) represents a novel regulator of adipogenesis.
D
Correct answer
Explanation
Edward's syndrome is an abnormality leading to mental deficiency. It is caused by trisomy of chromosome number 18.
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deficiency disease
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hereditary disease
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degenerative disease
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sex-linked disease
B
Correct answer
Explanation
Albinism is an inherited (hereditary) genetic condition caused by mutations in genes involved in melanin production. It is not a deficiency disease (caused by lack of nutrients), degenerative disease (progressive deterioration), or exclusively sex-linked (though some forms can be X-linked).
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homozygous dominant state
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homozygous recessive state
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codominant condition
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heterozygous state
A
Correct answer
Explanation
IRF6 (Interferon Regulatory Factor 6) is a well-documented gene sequence that scientists have identified as a major genetic factor contributing to cleft lip and palate formation when mutated. This is a specific genetic marker in craniofacial development research.
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Pepsinogen
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Ptylin
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Adenosine deaminase
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Cellulase
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Alanine transaminase
C
Correct answer
Explanation
It is an immune linked enzyme and its deficiency causes immunity disorder.
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functional problem
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type of cancer
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hormonal imbalance
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congenital abnormality
D
Correct answer
Explanation
Androgen insensitivity syndrome is a congenital genetic disorder causing genetic males to behave like females, due to the inability to utilise androgens.
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Abnormal curvature of penis
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Testicular failure
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Painful erection in absence of sexual stimulation
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Loss of libido
A
Correct answer
Explanation
Abnormal curvature of penis is observed in Peyronie's disease due to chronic inflammation of the tunica albuginea.
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1 and 2
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1 and 3
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2 and 3
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2 and 4
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3 and 4
B
Correct answer
Explanation
Yes, it is the correct answer.
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Reiter's syndrome
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Lymphogranuloma venereum
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Inclusion conjunctivitis
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Trachoma
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Lymphogranuloma venereumis
A
Correct answer
Explanation
Reiter's syndrome is a triad of symptoms that include conjunctivitis, polyarthritis and genital inflammation. The disease is associated with HLA-B27.