Chromosomes are significant structures in human genetics. There are 23 in each set, and in total, there are 46 chromosomes in humans. These consist of 22 pairs of autosomes, which are chromosomes individuals do not have sex-linked; therefore, males have XY and females have XX. Each chromosome has specific genes which help in the handling of diverse functions and traits. For instance, chromosome 22 carries genes involved in the immune response and neurological functions. Conditions that include an additional copy of chromosome 21 comprise Down syndrome. The Chapter "Principles of Inheritance and Variation" of Biology focuses precisely on this theme; very important for students appearing for entrance exams like NEET and JEE, who should know about the 23 chromosomes and their functions.
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Humans possess a total of 23 chromosomes in humans, arranged into pairs that carry genetic information.
Here's a summary table on the functions and disorders associated with each chromosome that you learned in this lesson:
Chromosome | Description |
Chromosome 1 | Chromosome 1 contains 2,000 to 2,100 genes responsible for instructions for making proteins. It is the largest chromosome present in the human body among the total 23 pairs of chromosomes. |
Chromosome 2 | It is found to be the second largest human chromosome and is responsible for the longest known protein-coding sequence, a 280,000 base pair gene for a muscle protein called titin. |
Chromosome 3 | This chromosome includes gene clusters responsible for coding olfactory receptors (involved in the sense of smell) and chemokine receptors that aid inflammatory processes. |
Chromosome 4 | Chromosome 4 codes for genes related to Huntington's disease and polycystic kidney disease, as well as muscular dystrophy and various inherited disorders. |
Chromosome 5 | This chromosome plays a major role in cell growth and division. |
Chromosome 6 | Chromosome 6 is associated with over 120 genes for major human diseases, including cancer, heart disease, and some infectious and inflammatory disorders. |
Chromosome 7 | Its deletion causes Williams syndrome and is involved in body growth. |
Chromosome 8 | This chromosome is responsible for normal brain formation and developmental variations, including small head size or facial differences. |
Chromosome 9 | Responsible for body growth and division; it contains a gene for hexokinase. |
Chromosome 10 | Contains 700-800 genes responsible for making proteins, including the gene for the ABO blood group. |
Chromosome 11 | Contains genes for insulin and catalase; its deficiency leads to Ataxia telangiectasia. |
Chromosome 12 | Contains genes for Collagen II and alpha-1 salivary protein complex; its deficiency leads to Phenylketonuria and Pallister-Killian syndrome. |
Chromosome 13 | Contains genes for Collagen IV alpha-1 chain and alpha-2 chain ribosomal RNA; its deficiency leads to Patau syndrome, retinoblastoma, and Wilson’s disease. |
Chromosome 14 | Contains genes for T-cell leukemia-1 and immunoglobulin heavy chain gene cluster ribosomal RNA; its deficiency leads to Alzheimer's, Burkitt’s lymphoma, and multiple myeloma. |
Chromosome 15 | Contains genes for ribosomal RNA; its deficiency leads to Tay-Sachs disease, Marfan syndrome, and Prader-Willi syndrome. |
Chromosome 17 | Contains growth hormone; its abnormalities can cause Charcot-Marie-Tooth disease. |
Chromosome 18 | Has genes related to gastric releasing peptide; its deficiency can cause Niemann-Pick disease. |
Chromosome 19 | Contains genes related to the Bombay phenotype (green/blue eye color); its deficiency can cause myotonic dystrophy or maple syrup urine disease. |
Chromosome 20 | Responsible for growth hormone-releasing factor (somatocrinin); dysfunction can lead to Alagille syndrome. |
Chromosome 21 | Contains ribosomal RNA; associated with genetic disorders like Down syndrome and autoimmune polyendocrine syndrome. |
Chromosome 22 | Responsible for several important genes related to immune system function; it also plays a role in neurological development and disorders. |
Chromosome XX | Contains genes for Haemophilia A (factor VIII) and Haemophilia B (factor IX); can cause disorders like Turner syndrome and Haemophilia A. |
Chromosome XY | Contains genes related to pseudoautosomal segments, testicular determining factor, azoospermia-third factor, and H-Y antigen; abnormalities can lead to genetic diseases like Y chromosome microdeletion or XYY syndrome. |
Understanding the 23 chromosomes and their functions is crucial for identifying genetic disorders that can arise from mutations.The 23 chromosome names help in diagnosing genetic conditions by identifying which chromosome is affected.Knowing how many chromosomes do humans have plays a crucial role in identifying chromosomal abnormalities during medical assessments.
Here’s a table summarizing Tips, Tricks, and Strategies to Prepare for 23 Chromosomes and Their Functions:
Tip/Strategy | Description |
---|---|
Mnemonic Devices | Create memorable phrases to recall the 23 chromosomes and their functions easily. |
Visual Aids | Use endocrine system diagrams and labelled images to visualize chromosome structures. |
Flashcards | Make flashcards for each chromosome, including its name, function, and associated disorders. |
Group Study | Discuss the 23 chromosomes names and their functions with peers to enhance understanding. |
Practice Questions | Solve previous years' exam questions related to the topic to familiarize yourself with formats. |
Here’s a concise mnemonic table summarizing the key points from the article about chromosomes:
Key Concept | Mnemonic Phrase | Summary |
---|---|---|
Total Chromosomes | "46 Total, 23 Pairs" | Humans have 46 chromosomes arranged in 23 pairs: 22 autosomes and 1 pair of sex chromosomes (XX/XY). |
Functions of Chromosomes | "Genes Determine Traits" | Chromosomes carry genes that determine traits like height and eye color, and play roles in various diseases. |
Down Syndrome | "Extra 21" | Individuals with Down syndrome have an extra chromosome, totaling 47 chromosomes (Trisomy 21). |
Chromosome 22 | "Immune and Neurological" | Chromosome 22 is responsible for genes related to immune function and neurological development. |
Chromosome Disorders | "Specific Deficiencies" | Each chromosome is linked to specific disorders, such as Huntington's disease (Chromosome 4) and Tay-Sachs disease (Chromosome 15). |
The weightage of the topic 23 Chromosomes and Their Functions have been discussed below:
Entrance Exam | Weightage | Estimated Percentage |
---|---|---|
High | 15-20% | |
Moderate | 10-15% | |
Moderate | 10-15% | |
High | 15-20% | |
UPSC (Biology Section) | Moderate | 10-15% |
The types of questions asked on 23 Chromosomes and Their Functions are discussed below:
Entrance Exam | Types of Questions |
---|---|
NEET | MCQs on functions and disorders |
JEE Main | Conceptual questions on genetics |
JEE Advanced | Application-based problems |
AIIMS | Assertion-reason type questions |
UPSC (Biology Section) | Descriptive questions on chromosome roles |
State Medical Exams | Multiple-choice questions on disorders |
CBSE Class 12 Biology | Short answer questions on definitions |
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It contains genes for Nonhistone chromosomal protein 1 and also for Hemoglobin alpha and Haemoglobin zeta. Its deficiency leads to Familial Mediterranean fever and Thalassemia.
Sex chromosomes play a great role in the determination of sex of the child. If the X chromosome comes from the male and X chromosome comes from the female then it will be a female child and if X comes from female and Y chromosome comes from the male then it will be a male child.
Geneticists make the use of 'map unit’ to calculate the distance between linked genes. It is defined as a diagrammatic graphical representation that shows the exact arrangement, and combination of genes in a linkage group of chromosomes.
Karyotype is defined as the entire set of chromosomes of a cell or individual, as represented during mitotic metaphase.Idiogram is defined as the diagrammatic representation of a karyotype. in an ideogram, the chromosomes of a haploid set of an organism are numbered in a series of decreasing sizes
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