Essays on Chromosome

Introduction

Exom sequencing is also known as whole exom sequencing (WES). This sequencing technique is used to sequence all the expressed genes in a genome also called as exom. It is one of the most widely used targeted sequencing methods. The exom which is the protein coding region of the human genome consists of less than 2% of the genetic code. This region is responsible for containing more than 85% of known disease-related variants. Thus, whole exom sequencing is a cost-effective alternative to whole genome sequencing (WGS). This technique is efficient in identifying coding variants across a wide range of ...

Gregor Mendel's studies laid the foundation for modern genetics. In a series of elegant experiments, Mendel was able to deduce the most fundamental laws of single-gene and multiple-gene inheritance without having the scientific data on chromosomes, their structure, or meiotic segregation. In this lab, you will learn about and apply examples for 3 different patterns of human inheritance of traits.

Punnett Square is a tool used to theoretically predict genotypes of the progeny from the genotypes of parents as a result of sexual reproduction. Genes from parental gametes are written as rows and columns of the Punnett Square. All ...

Turner’s syndrome is a genetic disorder which mainly affects female growth and development. It is also termed as gonadal dysgenesis which occurs because of the absence of sex chromosome (X). The absence of the X chromosome causes abnormal development in human females. Instead of having a pair of 46 normal XX chromosomes, females with gonadal dysgenesis develop 45,X chromosomes (Castiglia, 1997). This odd combination of chromosomal pairing results in a conflicted sex of the person, where they are neither distinguished as male or female, due to the absence of the second X chromosome that would establish them ...

Introduction

Sickle Cell Anemia or Sickle Cell Disease is an inherited blood ailment. Those suffering from Sickle Cell Disease have abnormal S/ sickle hemoglobin in the red blood cells. Hemoglobin is the protein in the blood that aids in carrying oxygen throughout the body. The ailment takes its appellation from the shape of the red blood cells of a person affected by Sickle Cell Disease, which have the shape of a sickle. They are stiff and adhesive rather than a disk like normal cells. The misshapen cells tend to get trapped in the small blood vessels hindering the movement of ...

Hemophilia is an inherited disease that is likely to affect males. It is well-known throughout the history as the most dreadful sickness that prevented normal blood clotting. As a result, diseased people could bleed for hours or even days as they lack a necessary clotting component in their blood. The responsible gene is transmitted in the X chromosome, and this makes males more subjected to the disease. They inherit only one X chromosome, so if it contains mutated gene, it means that a person will surely have the disease. Females have a second X chromosome, and it is usually ...

Down syndrome was said to be the first intellectual disability syndrome and, at the same time, the most common form of genetic intellectual disability. People started to become aware of this syndrome when Esquirol (1845) wrote about it, although it was Down (1887) who first created an accurate description of the said syndrome (Scorza et al., 2011, p.719). It is one of the most common congenital chromosome anomaly, in which there happens to be “one extra copy of chromosome 21 in cells in the body” (Down Syndrome Ireland, 2013, p.3). This irregularity may thus, affect the physical and intellectual ...

Introduction

Endometrial cancer refers to a type of cancer that affects the endometrium, which is the inner lining of the womb or uterus. Endometrial cancer is one type of cancer that is somewhat different when compared to other types of cancer, as it affects others parts of the body depending on its severity. That means that poor management of this type of cancer may have significant impacts to other parts of the body attributed to the spread of this cancer to different organs. The cancer arises from an abnormal growth of cells within the womb thereby resulting in a situation ...

Turner syndrome is a typical example of a chromosome abnormality caused by the mutation of the chromosomal DNA complex. It is caused by the missing of one sex chromosome in the body. It is presented when the sexual gene orientation of a lady’s chromosome are not complete and lack some genes (Rosenfeld et al. 23). It is caused during the sexual intercourse when a pair of chromosomes fails to separate hence leading to the formation of an embryo with only one X-chromosome. In the embryo formation during copulation, both the parents give out X-chromosomes leading to XX-chromosomes but ...

There are six stages in the life cycle of a mitotic cell which include interphase and cytokinesis. The mitosis stage is divided into four other sub stages. Mr. Interphase performs various functions such as the cellular respiration, photosynthesis and protein synthesis in preparation to undergo the Mitosis stage. Mr. Mitosis has four witnesses, Prophase who helped nuclear membrane disappear into the genetic material. The other witness, Metaphase, makes the alignment of the chromosomes. Anaphase helps in centralizing the chromosomes and changing them from being x-shaped (Rieder, 17). The last witness created the new component of nuclei with their new ...

Final Test

Explain in general terms the process of DNA replication. The replication of the DNA starts when the double helix unwinds. Each of the two strands serves as the template using which the new DNA double helix strands are formed. The different bases on each of the two strands are then matched in order to form a new set of two strands. Each of the new strands partners with the parent strand to form a double helix (Roth 26).

Prophase – Chromatids are joined at the centromere. Spindle formation occurs. The separation of centrioles occurs in animal cells (Tobin and Jennie ...

Description

The Rett syndrome is originally known as cerebroatrophic hyperammonemia. It is a rare genetic disorder which commonly affects women although there are cases where it could be found in male patients. It is considered as a postnatal neurological disorder which affects the grey matter of the brain. Rett syndrome is also considered as a progressive disorder which affects the development of the brain. It is also considered as one of the common cause of mental disorders among women. It occur about 1 in 10,000 births and it typically develops at age 6 to 18 months. The signs or ...

In 1872, the 22-year-old George Huntington presented a paper describing an elaborately outlined inheritance pattern of a disease, which during the time was referred to as "chorea." In his paper, which was presented at the Meigs and Mason Academy of Medicine at Ohio, George described all the features of the adult-onset form of the disorder and outlined the disease’s autosomal-dominant pattern of inheritance. Although the mechanism underlying the inheritance pattern of the disease was not understood until the rediscovery of Mendel’s works, his paper was so comprehensive that George Huntington quickly became widely acclaimed. In fact, he ...

Barbara McClintock was a one time student at Cornell University under the auspices of one C. B. Hutchison, who was lecturing in genetics during the fall in 1921. Genetics had not become a widely accepted course during the time, and students used to study it as a preamble to becoming plant breeders. Having been born in Hartford Connecticut in 1902, she earned her first degree in 1923, her Masters in 1925 and a Doctorate in Philosophy in 1927. Her steady rise as a geneticist was inspired by C. B. Hutchison. She studied the genetic characteristics of maize concentrating on ...

A General Outlook on Meiosis and Mitosis Processes

Compare and contrast mitosis and meiosis. Think phases, starting and ending products, chromosome numbers, the purpose of each, and the cell types that complete each type of division. Be sure to do a DIRECT compare and contrast, and write in paragraph form - Mitosis involves one cellular division resulting in identical daughter cells while meiosis involves two cellular divisions resulting in different daughter cells. Meiosis produces four haploid cells while mitosis produces two diploid cells- this ensures genetic diversity by sexual reproduction in meiosis and cellular reproduction and production of general growth products in mitosis. The chromosome number also ...

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Overview

Based on a 2005 survey that was published in the Archives of General Psychiatry, 2.6 percent of the adult population has a bipolar disorder (National Institutes of Health, n.d.). Among these people, 82.9 percent have severe cases of the said condition. Bipolar disorder, also known as manic-depressive disorder, is a serious condition which affects patients’ day to day lives. The National Institutes of Health (n.d.) describes this condition as a “dramatic shifts in mood, energy, and activity levels.” In the popular culture, this disorder have been presented in many American films. For instance, in the year 2012, ...

Trisomy

Chromosomes are marvelous things! They carry in their genes the entire genetic code required to build a human being. Comprised of nucleic acid (DNA) and proteins, twenty-three pairs of chromosomes located in the cell nucleus are needed for the normal development of a human embryo. However, sometimes things go wrong. This paper will discuss some of the consequences of faulty chromosome separation during fertilization, resulting in Trisomy. Trisomy is a chromosomal condition which occurs when three chromosomes, instead of the normal two are produced during cell division. This happens due to the failure of human chromosome pairs to separate ...

Q1. Explain the regulation of the cell cycle

Every cell is regulated by particular checkpoints to ensure that the daughter cells are exact duplications. This is to help guarantee that cell mutations are not passed on to the next generation of cells. In eukaryotic cells, there are three main checkpoints. These are points at which cell replication can be halted until certain conditions are met (Boundless, 2016). The first checkpoint is near the end of the G1 phase. It is here that DNA gets evaluated and checked for damage. If damage has occurred, it either gets corrected or gets prevented from moving on to the next phase ( ...

Abstract

Hemophilia is a genetic condition that is traceable in generations. The disease is usually linked to the excessive bleeding of the patient at a point where the blood vessel is damaged. A lot of research on the disease has been carried out trying to define the origin of the disease and offer extensive support to the solution of the condition. Over time, the disease has attracted extensive attention as the cases of the disease increase. It has not been easy to control the disease since the condition has been overwhelmingly disturbing to the patients as well as the family ...

DOWN’S SYNDROME

Describe a patient with the condition of Down’s syndrome. Answer: Julie, an eighteen years old female patient was diagnosed with Down’s syndrome. She was dependent on her parents for basic routine tasks like washing and dressing. These issues began to pose as more problematic day by day as it was not possible for her to go out on trips with her friends. She was unable to move out of her home due to her extreme dependency on her parents (Katemeadsassociates.com, 2016).

What is Down’s syndrome?

Answer: Down’s syndrome is a medical condition that develops as a result of Trisomy of ...

Introduction

Down syndrome is an atypical chromosomal condition. The main cause of this abnormal condition is Trisomy-21, a genetic error, where every cell in the individual’s body consists of three chromosome 21 facsimiles. The presence of additional chromosome 21 replicas results in the individual’s abnormal physical development and the related cerebral disability resulting in leukemia, cardiac issues, and distinguishing physical characteristics (Lana-Elola, Watson-Scales, Fisher, & Tybulewicz, 2011). Although, it is not possible to cure Down syndrome, the availability of various treatment options make it possible for the parents and healthcare providers to handle the patient with effectiveness.

Etiology and Risk Factors

In general, ...

In Tissenbaum and Guarente's research study, they concluded that increasing the dosage of a SIR2 gene is associated with extended lifespan of roundworms, Caenorhabditis elegans (Tissenbaum & Guarente 228). To easily understand their research study, let us discuss a little background abound longevity of C. elegans. In 1997, a research study headed by Kimura, Tissenbaum, Liu and Ruvkun found the gene that potentially regulates the longevity and diapause in Caenorhabditis elegans. In C. elegans, their life cycle after the initial larval stage can proceed to two different stages: either the reproductive stage, or the dauer diapause stage (Hu). In their ...

Turner’s syndrome is a disease that usually affects females. It occurs when one of the X chromosomes (out of the pair of two XX chromosomes) of a female is either missing completely or partially. It can lead to huge numbers of developmental problems and medical complications. Some of the presenting features are short stature, delayed puberty, infertility, defects in the cardiovascular system, inability to grasp or learn new things and problems with social adjustments. The disease can be diagnosed in the gestational phase of the female or during early years of life. It is a rare occurrence that ...

[Biology]

In general, a genetic disease is any kind of disease which is caused of the deformity in the human genome, his whole genetic makeup (Melissa Conrad Stöppler). Basically, it means that person is being different from standard or normal people, because he or she is suffering from a certain kind of illness. Nowadays, unfortunately, there are many humans who are affected by various genetic diseases and the list of them is rather huge. Let us take into account and discuss widely spread type of genetic disease which is called Down syndrome. This illness is a typical chromosomal ...

Major Achievements in Biology

Researchers and scientists are always intrigued by biological processes and activities, and strive to utilize them for benefit of mankind. Antibiotics, monoclonal antibodies, vaccines and several therapeutic agents, high yielding as well as disease tolerant plants and animals are all results of extensive research in the fields of cell and molecular biology, immunology, biotechnology and genetic engineering. Treatment to several diseases, even genetic disorders are available today only due to breakthrough discoveries in biology. Three such important discoveries are revelation of structure of ribosomes through X-ray crystallography, identification of tumor specific antigens (TSA) expressed on the surface of cancer ...

Therapeutic recreation is a form of health practice that is focused on interventions to make people with disabilities to feel better. These interventions aim at improving their cognitive, social and physical functioning as far as any disability is concerned (Coyle and Shank 102). The definition of the word ‘disability’ is not clear to many people. Disability is seen to involve a lot of other things other than what is commonly known and perceived by most people as a disability. The Americans with Disability Act defines a person with disability as “anyone that has physical or mental impairment which limits ...

Gene Typing Tay-Sachs

Tay-Sachs disease is an inherited metabolic disease of lysosomal lipid metabolism, and it is caused by the mutation of genes encoding the HEXB gene. It is a very severe genetic disorder which occurs in children in most cases and results in progressive destruction of the nervous system of the affected individual (Walker, 2007). The factors that cause the occurrence of the diseases is the absence of the hexosaminidase-A (HEX-A) enzyme that is very critical to have in the human genetic system. The lack of the HEX-A enzyme causes the accumulation of a fatty substance known as GM2 ganglioside in ...

Abstract

Transformation remains, and hugely significant tool in extending the borders of life sciences and medicine. It can be referred as fixing intracellular DNA into a bacteria or organism through the vector, thus transforming it. This paper uses plasmid pUC18, self-reproducing circular/spherical strands of genes that may be modified. After the bacteria absorb the vector, some proteins not usually synthesized will occur. In this study, a system has been developed to monitor the transmittance of different DNA (genes) from a genetically transformed strain of Saccharomyces cerevisiae to E. coli. This mechanism is centered on yeast strains that contain several integrated ...

Procedure 1: Locating the position of a gene

In Ensembl: Search the internet link to the ensemble website: http://www.ensembl.org/index.html On the Genome Browser located on the web page, select the human genome – GRCh38.p5 – to obtain various sub-topics about the genome. Type the name of the gene in the search box of the human genome webpage. The MSRA homepage will contain a summarized description of the gene, including the including the location of the chromosome, its size, and the start and finish nucleotide.

In NCBI:

Search the link http://www.ncbi.nlm.nih.gov/ to obtain the NCBI homepage. Type the gene name MSRA on the gene search box. From the list of search results, ...

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Introduction

Genome imprinting is the latest technique that has genetically modified the face of infertility; it is an epigenetic phenomenon through which the parental origin of a gene is determined based on its expression. 1 There are a vast number of genes in mammals that are marked with their parental origin, and the result of this phenomenon is a single parental allele. These marked genes are known as “imprinted.” They rely on the epigenetic machinery determining their parental identity and maintaining their origin-specific gene expression. There are 100 imprinted genes estimated in human and 200 ...

According to Palladino (2006), the Human Genome Project (HGP) was a scientific research project carried out internationally for thirteen years. This project was initiated by the U.S government with the support of other contributors such as public and private researchers with the goal of tracing and mapping nucleotides as found in the human Haploid Reference Genome. In other words the project was driven by the need and interest to collect information about the human genome. In this regard, the project was carried out in order to determine the sequence followed by chemical base pairs which are responsible for the ...

Introduction

This paper will define and describe aggression behavior, types of aggression behavior and disabilities in which aggression behavior common. Additionally, the paper shall differentiate between the different types of aggression behaviors and efficient interventions to manage the behaviors. The paper will also outline constructive and destructive actions and motivations behind human aggression conduct. Knowledge of aggression behaviors is significant in understanding children with such behaviors and how to deal with them effectively (Kurtz et al. 2015). Awareness of these terms will, in turn, enhance relationships among children and people with such behaviors and disabilities in a learning environment. This ...

Lis Rodriguez

Lab 1 ASA College Abstract Patau’s syndrome is a rare genetic disorder that involves trisomy 13. The condition is characterised by either an extra copy of the autosomal chromosome number 13 or a translocation to chromosome 13 from another chromosome. There are severe symptoms observed in the unborn and newborn children having this defect. Polydactyly, cleft lips, physical retardation, mental retardation, heart defects are few of the many symptoms. The disease can be diagnosed during gestation via screening methods followed by several analytical procedures like FISH, karyotyping and microarray on samples of blood and serum from the pregnant ...

The aging process occurs during a person’s lifespan. Nobody can escape this process and it happens to everyone. Aging is associated with maturation, growth, and discovery (Cohen et al., 2015). Many abilities of human beings peak before the age of 30, but there are other abilities that continue to grow and develop throughout the life of a person. Most people who are over the age of 65 are healthy, fully independent, and happy while others start experiencing signs of deterioration. These changes are normal and not harmful. The hair thins and start turning gray and skins thins and ...

GMO is genetically modified organism. It has become very wide spread in our world. However, not all the people are aware of what GMO is and what it does to their bodies. Many consumers are buying products at the grocery store and are clueless that they have become a part of the global experiment. Nowadays many activists are trying to explain people what GMO is and how it works. David Suzuki and BBC Documentary “Ghost in Your Genes” provide a lot of explanation to the issue of GMO in the modern world. Overpopulation is one of the main reasons ...

Chapter 9

Question 1

Binary mission in prokaryotes Mitosis and Meiosis in eukaryotes Question 2 The development of embryos as well as the growth and development of bodies. Important in asexual reproduction. Question 3 The term cell cycle refers to an ordered set of events leading to cell growth and division into two daughter cells.

Question 4

Interphase is a phase of the cell cycle characterized by the absence of cell division. During this phase, the cell obtain nutrients, the organelles duplicates, protein synthesis takes place, and cells duplicate its genetic material (its chromatids). The genetic material is located in the nuclei of ...

Part A.

There has been at least a dozen various human like species since the earliest homid species split from the ancestral line the humans shared with the apes. This was approximately 6 to 8 million years ago. Most of these homid human like creatures are just relatives to the human beings and are not their ancestors. Humans are more closely related to modern apes like gorillas and chimps more they are to the monkeys. It is believed that humankind shares a common ancestry line with the African apes, like chimps and gorillas. And it is believed that this common line of ancestry ...

Introduction

According to William (2006), gender can be defined in terms of social classes (man or woman, boy or girl) or factors associated to living the social duties of man or woman. In addition, they argue that gender identity is the feeling of one belonging to either the category of women or men. On the contrary, he perceives intersexes as lacking gender identity. Additionally, according to He also argued that, there exists a strong relationship between hormones and behavior which consequentially influence the gender identity of an individual.

Thesis

Gender identity, a process of self-identification in relation to sex, can be based on either ...