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IGNOU MANE 001 Solved Assignment 2022-23
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Important Note – IGNOU MANE 001 Solved Assignment 2022-23 You may be aware that you need to submit your assignments before you can appear for the Term End Exams. Please remember to keep a copy of your completed assignment, just in case the one you submitted is lost in transit.
Submission Date :
- 31st March 2033 (if enrolled in the July 2033 Session)
- 30th Sept, 2033 (if enrolled in the January 2033 session).
SECTION – A
1. Define Human Genetics. Briefly comment on different branches of Human genetics.
Ans. Human genetics is the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics, and genetic counseling.
Genes are the common factor of the qualities of most human-inherited traits. Study of human genetics can answer questions about human nature, can help understand diseases and the development of effective treatment and help us to understand the genetics of human life.
Inheritance of traits for humans are based upon Gregor Mendel’s model of inheritance. Mendel deduced that inheritance depends upon discrete units of inheritance, called factors or genes.
Autosomal dominant inheritance
Autosomal traits are associated with a single gene on an autosome (non-sex chromosome)—they are called “dominant” because a single copy—inherited from either parent—is enough to cause this trait to appear. This often means that one of the parents must also have the same trait, unless it has arisen due to an unlikely new mutation. Examples of autosomal dominant traits and disorders are Huntington’s disease and achondroplasia.
Autosomal recessive inheritance
Autosomal recessive traits is one pattern of inheritance for a trait, disease, or disorder to be passed on through families. For a recessive trait or disease to be displayed two copies of the trait or disorder needs to be presented. The trait or gene will be located on a non-sex chromosome. Because it takes two copies of a trait to display a trait, many people can unknowingly be carriers of a disease. From an evolutionary perspective, a recessive disease or trait can remain hidden for several generations before displaying the phenotype. Examples of autosomal recessive disorders are albinism, cystic fibrosis.
X-linked and Y-linked inheritance
X-linked genes are found on the sex X chromosome. X-linked genes just like autosomal genes have both dominant and recessive types. Recessive X-linked disorders are rarely seen in females and usually only affect males. This is because males inherit their X chromosome and all X-linked genes will be inherited from the maternal side. Fathers only pass on their Y chromosome to their sons, so no X-linked traits will be inherited from father to son. Men cannot be carriers for recessive X linked traits, as they only have one X chromosome, so any X linked trait inherited from the mother will show up.
Females express X-linked disorders when they are homozygous for the disorder and become carriers when they are heterozygous. X-linked dominant inheritance will show the same phenotype as a heterozygote and homozygote. Just like X-linked inheritance, there will be a lack of male-to-male inheritance, which makes it distinguishable from autosomal traits. One example of an X-linked trait is Coffin–Lowry syndrome, which is caused by a mutation in ribosomal protein gene. This mutation results in skeletal, craniofacial abnormalities, mental retardation, and short stature.
X chromosomes in females undergo a process known as X inactivation. X inactivation is when one of the two X chromosomes in females is almost completely inactivated. It is important that this process occurs otherwise a woman would produce twice the amount of normal X chromosome proteins. The mechanism for X inactivation will occur during the embryonic stage. For people with disorders like trisomy X, where the genotype has three X chromosomes, X-inactivation will inactivate all X chromosomes until there is only one X chromosome active. Males with Klinefelter syndrome, who have an extra X chromosome, will also undergo X inactivation to have only one completely active X chromosome.
A pedigree is a diagram showing the ancestral relationships and transmission of genetic traits over several generations in a family. Square symbols are almost always used to represent males, whilst circles are used for females. Pedigrees are used to help detect many different genetic diseases. A pedigree can also be used to help determine the chances for a parent to produce an offspring with a specific trait.
Four different traits can be identified by pedigree chart analysis: autosomal dominant, autosomal recessive, x-linked, or y-linked. Partial penetrance can be shown and calculated from pedigrees. Penetrance is the percentage expressed frequency with which individuals of a given genotype manifest at least some degree of a specific mutant phenotype associated with a trait.
Inbreeding, or mating between closely related organisms, can clearly be seen on pedigree charts. Pedigree charts of royal families often have a high degree of inbreeding, because it was customary and preferable for royalty to marry another member of royalty. Genetic counselors commonly use pedigrees to help couples determine if the parents will be able to produce healthy children.
Genomics is the field of genetics concerned with structural and functional studies of the genome. A genome is all the DNA contained within an organism or a cell including nuclear and mitochondrial DNA. The human genome is the total collection of genes in a human being contained in the human chromosome, composed of over three billion nucleotides. In April 2003, the Human Genome Project was able to sequence all the DNA in the human genome, and to discover that the human genome was composed of around 20,000 protein coding genes.
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics is the application of genetics to medical care. It overlaps human genetics, for example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counseling of individuals with genetic disorders would be considered part of medical genetics.
Population genetics is the branch of evolutionary biology responsible for investigating processes that cause changes in allele and genotype frequencies in populations based upon Mendelian inheritance. Four different forces can influence the frequencies: natural selection, mutation, gene flow (migration), and genetic drift. A population can be defined as a group of interbreeding individuals and their offspring. For human genetics the populations will consist only of the human species. The Hardy–Weinberg principle is a widely used principle to determine allelic and genotype frequencies.
Genetics is the scientific study of inherited variation. Human genetics, then, is the scientific study of inherited human variation.
One reason is simply an interest in better understanding ourselves. As a branch of genetics, human genetics concerns itself with what most of us consider to be the most interesting species on earth: Homo sapiens. But our interest in human genetics does not stop at the boundaries of the species, for what we learn about human genetic variation and its sources and transmission inevitably contributes to our understanding of genetics in general, just as the study of variation in other species informs our understanding of our own.
A second reason for studying human genetics is its practical value for human welfare. In this sense, human genetics is more an applied science than a fundamental science. One benefit of studying human genetic variation is the discovery and description of the genetic contribution to many human diseases. This is an increasingly powerful motivation in light of our growing understanding of the contribution that genes make to the development of diseases such as cancer, heart disease, and diabetes. In fact, society has been willing in the past and continues to be willing to pay significant amounts of money for research in this area, primarily because of its perception that such study has enormous potential to improve human health. This perception, and its realization in the discoveries of the past 20 years, have led to a marked increase in the number of people and organizations involved in human genetics.
This second reason for studying human genetics is related to the first. The desire to develop medical practices that can alleviate the suffering associated with human disease has provided strong support to basic research. Many basic biological phenomena have been discovered and described during the course of investigations into particular disease conditions. A classic example is the knowledge about human sex chromosomes that was gained through the study of patients with sex chromosome abnormalities. A more current example is our rapidly increasing understanding of the mechanisms that regulate cell growth and reproduction, understanding that we have gained primarily through a study of genes that, when mutated, increase the risk of cancer.
2. What is Mitosis? Discuss briefly the different stages of cell division with suitable diagrams.
3. What is Hardy Weinberg Equilibrium? Briefly examine the factors affecting change in gene frequency.
4. Discuss different types of chromosomal aberrations in man.
5. Write short notes on any two of the following:
a). Fluorescence in Situ Hybridization
b). ABO blood group system
c). Phenylketonuria (PKU)
d). DNA
SECTION – B
6. What is Genetic screening and Genetic counselling? Discuss the various steps that are involved in Genetic counselling.
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7. What is Human Genome Project? Discuss briefly the applications of Human Genome Project.
8. Define Genetic polymorphism. Discuss with suitable examples.
IGNOU MANE 001 Solved Assignment 2022-23
9. What is Genetic Epidemiology? Brief comment on methods of Genetic Epidemiology.
10. Write short on any two of the following
a) Genomics
b) Polymerase Chain Reaction (PCR)
c) Ethical, Legal and Social issues in genetic research
d) Colour blindness
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IGNOU Instructions for the MANE 001 HUMAN GENETICS
IGNOU MANE 001 Solved Assignment 2022-23 Before attempting the assignment, please read the following instructions carefully.
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