Class 12 · Molecular Basis of Inheritance

Single Nucleotide Polymorphisms (SNPs) — NEET Biology

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Scientists have identified about 1.4 million locations where single-base DNA differences (SNPs – single nucleotide polymorphism, pronounced as 'snips') occur in humans. This information promises to revolutionise the processes of finding chromosomal locations for disease-associated sequences and tracing human history.

NCERT Biology · Class 12 · Chapter 5 · Paragraph 149
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Which of the following statements about the Human Genome Project (HGP) and its outcomes are NOT correct? S1: The Human Genome Project was primarily a 5-year initiative aimed at exclusively sequencing the coding regions of the human DNA. S2: Expressed Sequence Tags (ESTs) represented an approach focused on identifying all genes that are transcribed as RNA. S3: One of the major findings was that approximately 99.9% of nucleotide bases are identical in all humans, highlighting minimal genetic variation. S4: Repetitive DNA sequences, which form a significant portion of the human genome, are thought to have direct coding functions. S5: The project identified approximately 1.4 million locations of Single Nucleotide Polymorphisms (SNPs), which are crucial for tracing human history and disease association.

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Correct answer: D S1 and S4 only

This question requires identifying incorrect statements concerning the Human Genome Project. Let's evaluate each statement: S1: This statement is incorrect. The Human Genome Project was a 13-year project (completed in 2003, started in 1990) and aimed at sequencing the *entire* human genome, including both coding and non-coding sequences, not exclusively coding regions. S2: This statement is correct. Expressed Sequence Tags (ESTs) was an approach that focused on identifying all the genes that are expressed as RNA. S3: This statement is correct. A significant finding was that almost all (99.9 per cent) nucleotide bases are exactly the same in all humans. S4: This statement is incorrect. Repetitive sequences make up a very large portion of the human genome, but they are thought to have *no direct coding functions*. S5: This statement is correct. Scientists identified about 1.4 million locations where single-base DNA differences (SNPs) occur in humans, which is valuable information for various applications. Therefore, statements S1 and S4 are NOT correct.

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Scientists have identified about 1.4 million locations where single-base DNA differences (SNPs – single nucleotide polymorphism, pronounced as 'snips') occur in humans. This information promises to revolutionise the processes of finding chromosomal locations for disease-associated sequences and tracing human history.
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Molecular Basis of Inheritance, Class 12 NCERT Biology.

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