Introduction to the human genome Flashcards
What is the human genome?
The complete set of genetic information for humans, including all genes and non-coding sequences.
How many chromosomes are found in the human genome?
46 chromosomes, organized into 23 pairs.
What are the two types of chromosomes in the human genome?
Autosomes and sex chromosomes.
True or False: The human genome contains only protein-coding genes.
False. It includes both protein-coding and non-coding sequences.
What is the estimated number of protein-coding genes in the human genome?
Approximately 20,000 to 25,000 protein-coding genes.
Fill in the blank: A __________ is a specific location on a chromosome that contains a gene.
locus
What is the function of non-coding RNA in the genome?
Non-coding RNA plays roles in gene regulation and other cellular processes.
What are introns?
Non-coding sequences within a gene that are removed during RNA processing.
What are exons?
Coding sequences of a gene that are retained in the final mRNA.
Which chromosome pair determines a person’s sex?
The 23rd pair, consisting of either XX for females or XY for males.
True or False: The majority of the human genome is composed of repetitive sequences.
True.
What is a gene?
A segment of DNA that contains the instructions for making a specific protein.
What is the role of regulatory sequences in the genome?
Regulatory sequences control the expression of genes.
What is a SNP?
Single nucleotide polymorphism, a variation in a single nucleotide that occurs at a specific position in the genome.
Fill in the blank: The human genome project was completed in __________.
2003
What is the significance of the human genome project?
It provided a complete map of human DNA, aiding in medical research and understanding genetics.
What are telomeres?
The protective caps at the ends of chromosomes that prevent degradation.
How do mutations affect the human genome?
Mutations can lead to variations in traits and may contribute to diseases.
What is the role of histones in the genome?
Histones are proteins that help package DNA into a compact structure called chromatin.
True or False: All genes are expressed in every cell type.
False. Different genes are expressed in different cell types.
What is an allele?
An alternative form of a gene that can exist at a specific locus.
What does it mean for a gene to be ‘dominant’?
A dominant gene’s traits are expressed even when only one copy is present.
What is genetic recombination?
The process by which genetic material is exchanged between chromosomes during meiosis.
What are copy number variations (CNVs)?
Large segments of DNA that vary in copy number between individuals.