Q.Mention any two ways in which single nucleotide polymorphism (SNPs) identified in the human genome can bring revolutionary change in biological and medical science.
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The Human Genome Project
The Human Genome Project (HGP) was a mega-international project launched in 1990 (largely completed in 2003) with the goal of sequencing the entire human genome — about 3 × 10⁹ base pairs — and identifying all its genes.
Its primary aim was to generate two main types of maps:
- Genetic (linkage) maps — the relative positions of genes/markers on chromosomes based on recombination frequencies.
- Physical maps — the actual physical distances between markers, measured in base pairs.
Two main strategies were used: Expressed Sequence Tags (ESTs), focusing on the expressed (gene) portions, and Sequence Annotation (shotgun sequencing), sequencing the whole genome and then assigning function.
Salient findings: the genome contains roughly 20,000–25,000 genes; less than 2% codes for proteins; chromosome 1 has the most genes and the Y chromosome the fewest; and repetitive sequences make up a large fraction. …
SNPs help pinpoint the chromosomal location of disease-associated genes and help trace patterns of human history and migration. …
Step 1. Scientists have identified roughly 1.4 million locations in the human genome where a single base commonly differs between individuals, called single nucleotide polymorphisms (SNPs).
Step 2. Because a SNP's exact chromosomal location is fixed and known, and because certain SNPs are statistically associated with particular diseases, identifying which SNPs a person carries helps researchers pinpoint the chromosomal location of disease-associated genes, supporting disease diagnosis, risk assessment, and the development of individually tailored medical treatment. …
Recall the two applications the chapter attributes directly to SNP identification: disease- …
- Listing a generic benefit of genome sequencing rather than the two applications specifica …
Showing the 12 most recent of 13 on this concept.
- CBSE 2026Set ANNUAL1 markQ.Expand HGP.
›Reveal solutionSolution
HGP stands for Human Genome Project, the international mega-project that sequenced and mapped the entire human genome.
HGP = Human Genome Project. It was a 13-year-long international collaborative project (1990–2003) aimed at determining the complete sequence of the ~3.2 billion base pairs that make up the human genome, identifying all the genes present in human DNA, and mapping their locations on the chromosomes. It was declared a 'mega project' because of the enormous scale o …
- CBSE 2026Set ANNUAL1 markMCQQ.Assertion (A) : For DNA sequencing the total DNA from a cell is isolated and converted into random fragments of relatively smaller sizes. Reason (R) : Human genome is said to have approximately 3 x 10^9 bP and total estimate cost for sequencing is very high.(a) Assertion (A) and Reason (R) both are true and Reason (R) is the correct explanation of Assertion (A).(b) Assertion (A) and Reason (R) both are true, but Reason (R) is not the correct explanation of Assertion (A).(c) Assertion (A) is true, but Reason (R) is false.(d) Assertion (A) is false, but Reason (R) is true.
›Reveal solutionSolution
DNA sequencing methods can only read relatively short stretches of DNA at a time, so for sequencing an entire genome, total DNA is fragmented into manageable, overlapping pieces — a necessity driven directly by the enormous size (~3 × 10⁹ bp) and cost of sequencing the human genome.
Assertion (A) correctly describes the standard 'shotgun sequencing' strategy used in the Human Genome Project: total genomic DNA is extracted and randomly sheared into smaller overlapping fragments, each of which is cloned in a suitable vector (BAC/YAC) and sequenced individually before the sequences are computationally reassembled. Reason (R) is also true — the human genome, at roughly 3 billion (3 × 10⁹) …
- CBSE 2026Set ANNUAL1 markMCQQ.Find out the wrongly matched pair.(a) Y-chromosome - 231 genes(b) Chromosome-1 - 2968 genes(c) Dystrophin - 2.4 million bases(d) Human genome - 300 bases
›Reveal solutionSolution
The Human Genome Project found the human genome to contain about 3.2 billion base pairs, not 300 -- so 'Human genome - 300 bases' is the wrongly matched pair; the other three pairings are genuine HGP statistics.
The Human Genome Project (HGP), completed in the early 2000s, generated a detailed catalogue of statistics about human DNA. Among the well-known figures: the Y chromosome, the smallest human chromosome, was found to carry the fewest genes, about 231; Chromosome 1, the largest human chromosome, carries the most genes, about 2968; and the largest known human gene, dystrophin (associated with Duchenne muscular dystrophy), spans about 2.4 million bases. These three pairings are correct. However, the human genome as a whole is not 300 bases long -- it comprises roughly 3.2 billion (3,164.7 mil …
- CBSE 2024Set ANNUAL1 markMCQQ.Number of base pairs in haploid set of DNA of human is(a) 3.3 x 10^9(b) 6.6 x 10^9(c) 4.6 x 10^9(d) 9.9 x 10^9
›Reveal solutionSolution
The human haploid genome (one set of 23 chromosomes) contains about 3.3 billion (3.3 x 10^9) base pairs of DNA.
The Human Genome Project determined that a haploid set of human chromosomes contains roughly 3.3 x 10^9 (3,300 million) base pairs. Since a diploid human cell has two haploid sets, the total DNA content per diploid cell is roughly double this, but the haploid genome size - the …
- CBSE 2024Set ANNUAL1 markQ.Chromosome _____ has the fewest genes.
›Reveal solutionSolution
Per the Human Genome Project data, chromosome 1 carries the most genes and chromosome Y carries the fewest.
The Human Genome Project sequenced and catalogued the gene content of all human chromosomes. Chromosome 1 has the highest number of genes (about 2968), while chromosome Y has the fewest genes (about 231) among all human chromos …
- CBSE 2023Set ANNUAL1 markQ.Define bioinformatics.
›Reveal solutionSolution
Bioinformatics is the use of computing tools to manage and make sense of huge quantities of biological sequence data.
Projects like the Human Genome Project generated enormous amounts of DNA sequence data, far too large to be stored, searched or analysed by hand. Bioinformatics developed to meet this need — it involves creating and maintaining databases of biological information (e.g., GenBank, which stores nucleotide sequence data), and developing algorithms/software tools for tasks such as sequence alignment, gene prediction, and comparison of genomes across species. Bioinformatics tools allow biologists to search these enormous datasets rapidly (for example, finding a matching sequence within seconds rather than sea …
- CBSE 2022Set ANNUAL1 markMCQQ.The total number of nitrogenous in human genome is estimated to be about ________.(a) 35 million(b) 3.5 million(c) 3.1 billion(d) 35,000
›Reveal solutionSolution
The human genome is estimated to contain about 3.1 billion nitrogenous base pairs, as established by the Human Genome Project.
The Human Genome Project (completed in the early 2000s) sequenced and mapped the entire human genome and estimated its size at approximately 3164.7 million (~3.1 billion) base pairs (bp), spread across 23 pairs of chromosomes, encoding roughly 30,000-25,000 genes (a much smaller number than base pairs, since most of the genome is non-coding). 35 million (a) and 3.5 million (b) are far too small to represent the whole genome's base-pair count, and 35,000 (d) is closer to (an older, since-revised) estimate of gen …
- CBSE 2021Set ANNUAL1 markQ.What is human genome project called?
›Reveal solutionSolution
The Human Genome Project, aimed at sequencing the entire human genome, is referred to as a mega project because of its enormous scale.
The Human Genome Project (HGP), completed in 2003, aimed to identify and map all the genes (estimated 20,000–25,000) present in human DNA and to determine the complete sequence of the roughly 3.2 billion base pairs that make up the human genome.
Because of the sheer scale of data generation and analysis involved — comparable to other 'mega projects' like the Human Genome Sequencing effort itself — it is popularly known as the Mega Project. Some of its goals included:
- Identifying all genes in human DNA.
- Determining the sequences of the 3 billion+ base pairs. …
- CBSE 2020Set ANNUAL1 markMCQQ.Which was the last Human chromosome to be completely sequenced in HGP?(a) Chromosome 1(b) Chromosome 10(c) Chromosome 18(d) Chromosome Y
›Reveal solutionSolution
Chromosome 1, the largest human chromosome, was the last one whose sequence was finished and published, completing the Human Genome Project's chromosome-by-chromosome sequencing effort in May 2006.
The Human Genome Project (HGP, 1990–2003 for the 'working draft', with finishing work continuing after) sequenced the roughly 3.3 billion base pairs of human DNA chromosome by chromosome. Because chromosome size roughly determines how much sequencing and gap-closing work is needed, the smaller chromosomes (e.g., chromosome 21, chromosome Y's euchromatic portion) were finished relatively early, while Chromosome 1, the largest human chromosome (about 2.15 % of the total genome, roughly 3,141 genes), required the most work and was the ver …
- CBSE 2020Set OC_ZOOLOGY1 markQ.What is genome?
›Reveal solutionSolution
The genome is an organism's total genetic blueprint — every gene and non-coding DNA sequence contained in one haploid chromosome set.
Definition
The genome is defined as the entire haploid set of an organism's genes/DNA, including both the coding sequences (genes/exons) and the non-coding sequences (introns, regulatory regions, repetitive DNA). It represents the complete genetic information required to build and maintain that organism.
Examples
- The human genome consists of about 3.3 billion base pairs distributed over 23 chromosomes (haploid set), containing an estimated ~20,000-25,000 protein-coding genes (as revealed by the Human Genome Project).
- Similarly, every species (bacteria, viruses, plants, animals) has its own characteristic genome size and gene content.
Significance
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- CBSE 2020Set ANNUAL1 markMCQQ.Which of the following chromosome has the highest gene density ?(a) Chromosome 'Y'(b) Chromosome 1(c) Chromosome 19(d) Chromosome 13
›Reveal solutionSolution
Among human chromosomes, chromosome 19 packs in the most genes per unit length.
The Human Genome Project's mapping of gene distribution across the 23 pairs of human chromosomes found that chromosome 19, despite being relatively small in physical size, is unusually gene-dense, containing far more genes per megabase than most other chromosomes (chromosome 1, the largest chromosome, actually has the greatest total number of genes, but not the highest density). The Y chromosome, i …
- CBSE 2019Set ANNUAL1 markMCQQ.How many genes are present in human 'Y' chromosome?(a) 231(b) 456(c) 196(d) 192
›Reveal solutionSolution
The Human Genome Project found the Y chromosome carries about 231 genes, far fewer than the X chromosome's ~1098 genes.
As part of the Human Genome Project's chromosome-wise gene count, the Y chromosome — the smallest human chromosome and present only in males — was found to contain approximately 231 genes. This is much lower than …
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