Abstract This research paper discusses the current and anticipated uses of Y-chromosomal STR haplotypes in forensics and population studies. It analyzes the literature regarding the subject and discusses the results and conclusions reached. The paper concludes that the individuality of the male-specific part of the Y chromosome can be optimally explored by the Y-STR haplotype analysis. The paper contains graphs and tables.
Table of Contents:
Abstract
Chapter 1: Introduction
Statement of the Problem
Purpose of Study
Importance of Study
Scope of Study
Rationale of Study
Overview of Study
Definition of Key Terms
Chapter 2: Review of Related Literature
Chapter 3: Methodology
Description of the Study Approach
Data-gathering Method and Database of Study
Chapter 4: Data Analysis
Chapter 5: Summary, Conclusions and Recommendations
From the Paper "The research showed that the ability to identify male-specific DNA renders polymorphic Y-chromosomal sequences an invaluable addition to the standard panel of autosomal loci used in forensic genetics. Y-STR haplotyping is particularly important for sensitive typing of male DNA in mixed stains as well as for rapid assortment of biological crime scene evidence. Moreover, Y chromosomal profiling can trace back paternal lineages into the past and has thus been proven a useful tool in genealogical and kinship testing. The research also showed that the individuality of the male-specific part of the Y chromosome can be optimally explored by the Y-STR haplotype analysis using a set of highly variable short tandem repeat markers approved by the forensic and scientific community."
Abstract This paper defines the Turner Syndrome as the absence or deformity of the X chromosome. It investigates the treatments available to individuals suffering from the syndrome. The paper explores the resources and support groups available for parents of children who are diagnosed with the disorder.
Table of Contents:
Introduction
Identification
Characteristics
Treatment
Resources and Support for Parents
Conclusion
References
From the Paper "It is estimated that Turner Syndrome occurs in 1 out of every 2500 live female births, making it one of the most common chromosomal disorders in the world. In the United States alone 800 new cases are discovered every year and an estimated 80,000 women battle with the disorder. ("Resources and Research: FAQ"s,? n.d.) The central purpose of this discussion is to identify and characterize the aforementioned condition using information gathered from the Turner Syndrome Society and The Gale Encyclopedia of Medicine. We will also investigate the treatments that are offered to individuals that suffer with the disorder including growth hormones and reproductive technologies. Finally, we will explore what resources and support groups are available for parents of children that are diagnosed with Turner Syndrome."
Abstract This paper examines the case of Richard Speck, a convicted murderer of eight women in the United State. At Speck's trial his attorney claimed that a new theory of behavioral causality with an identifiable chromosomal abnormality represented by the XYY configuration corresponded to specific behavioral traits that predisposed individuals to violent and antisocial behavior. The author of the paper examines evidence for and against this theory in the light of Speck's childhood, research and an autopsy performed on Speck's body after he died in 1991.
Outline:
Background and History
XYY Supermale Analysis
Social Biology Analysis
References
From the Paper "Critics of the XYY theory of criminal conduct suggest that even if XYY corresponds to higher statistical likelihood of certain types of antisocial behavior, it is not substantially different from other components of naturally evolved human behaviors. In other primate species, including those most closely related to homo sapiens, male dominance is expressed through patterns of behavior that would be considered, in human terms, criminal. According to that view, even XYY-based behavioral patterns still lie within the spectrum of normal human tendencies and that it is not particularly surprising that prisons house individuals who share behavioral traits consistent with criminal behavior (The Hastings Center 1980)."
Abstract This study examines the importance of chromosomal location in the expression of the sporulation gene spoIIQ in Bacillus subtilis. It hypothesizes that if spoIIQ were placed in different locations of the chromosome, it would enter at different times, causing it to enter the prespore after sF activity and negating spoIIQ expression. Twelve strains of B. subtilis were transformed by an integrative plasmid so that each strain contained a lacZ gene fused to the promoter of spoIIQ, at different locations in the chromosome. This fusion was utilized to determine spoIIQ activity during sporulation conditions through simple enzyme assay. The results in the paper show differences in the levels of expression for spoIIQ-lacZ present at the various locations, suggesting that the surrounding regions are having an effect on expression. The paper concludes that these results require continued research on the determination of factors affecting spoIIQ expression.
From the Paper "The entire process of sporulation along with other functions of the bacterium is regulated using sigma factors. These sigma factors are transcription factors that bind with RNA polymerase (E) to specify which genes will be expressed based on the promoter of the gene (Stratgier 1996). Interestingly, one such sigma factor, sF, is the only sigma factor active in 1) the prespore and 2) the early stages of sporulation. As sporulation commences, a copy of the single circular bacterial chromosome is moved from the mother cell and into the developing prespore with origin entering first and the terminus last (Piggot 2000)."
Abstract This paper looks at Down Syndrome. Named after English physician, John Langdon Down, this is a congenital condition characterized by varying degrees of mental retardation and multiple defects. It is the most common chromosomal abnormality of a generalized syndrome and is caused by the presence of an extra chromosome 21. It looks at how doctors, scientists, and researchers continue to explore the causes, effects, and treatment of Down Syndrome, and how, with the technological advances in the field of modern genetics, researchers are beginning to isolate individual genes in order to study their specific functions.
Outline
Introduction
Causes of Down Syndrome
Genetic Mechanisms for Down Syndrome
The Symptoms of Down Syndrome
Case Study
Conclusion
From the Paper "In order to fully understand the medical causes of Down Syndrome, a clear knowledge on the genetic basis of the disorder is required. During the fertilization stage, sperm and eggs cells are created through different processes called meiosis in which each pair of chromosomes splits or disjoins from each other which causes each daughter cell to receive only one chromosome from the original pair. Before they are fully developed, reproductive cells start out with 46 chromosomes, but as they mature, meiosis reduces their chromosome count to twenty-three. Thus, at conception, the sperm and egg each contain 23 chromosomes, being half the usual number; however, errors in chromosomal division during meiosis are very common."
Abstract This paper examines Trisomy 21 through case studies of the developmental disorder. It describes the typical Downs syndrome child, the discovery of the genetic birth defect, its physical appearances and the effects on the family.
Table of Contents:
John Langdon Down
What is Downs Syndrome?
Effects of the Family with Downs Syndrome
Physical Development
Learning and behavior
Motor Skills
Language Development
References
From the Paper "Down's Syndrome is a genetic condition, caused by a failure in the cell division process. The majority of affected children have a third copy of chromosome 21 in all their cells, instead of the usual two, and this results in the baby having 47 chromosomes instead of 46. In medical literature, Down's Syndrome is often referred to as trisomy 21 for this reason. While the condition has been recognized since the middle of the 19th century, its genetic basis was not discovered until 1959, when professor Jerome Lejeune, in Paris, first identified the characteristic combination of chromosomes."
Abstract This paper examines the question of genetics and homosexuality and how it has become increasingly important to discover its validity. It looks at how homosexuals are being refused leadership positions, custody and other benefits for something they allege is in born. The writer critiques literature relevant to the topic and presents the way each study was conducted and shows how studies have come down strongly on the side of genetics playing a part in the sexual orientation of each person. It evaluates how the maternal component of genetics has come to the forefront several times as the link to homosexuality and the importance of studying the maternal chromosomes more closely to try and locate the exact marker. It is a political and social need that it be determined one way or the other so that society can make its decisions based on fact not emotional reaction to homosexuality.
From the Paper "Because of the religious and moral arguments that have been presented regarding homosexuality over the years, the scientific world has been working to uncover the truth about the origin of sexual preference. Church leaders blast the homosexual community and condemn its members to eternity in hell, while advocates for the rights of homosexuals insist it is something they were born to be. Those who are against the practice of homosexuality believe it is a conscious choice made by a person and they have the power to change their mind and become heterosexual."
Abstract Scientific discussion of genetic material of Y Chromosone. Research on human genetics. Concept of sexual selection. Male & female traits. Genes on the Y Chromosone. & their crucial role. Implications of mechanisims of chromosomal sex determination.
From the Paper "Review of Functional Coherence of the Human Y Chromosome
Introduction
In the current rush to map the human genome it is sometimes easy to assume that the modern science of genetics understands all there is to know concerning the functions of the human Y chromosome. This is far from reality. Because there has been such tremendous effort for an extended period of time on molecular biology, i.e.; research into AIDS, cancer, and auto immune diseases, certain aspects of human genetics have been under.explored. This no longer is the case. The article by Lahn and Page make some salient points:
the wasteland model of Y chromosome content was based largely on anectodotal evidence (Lahn and Page, 1997, p 676)..."
Abstract This paper highlights difficulties with using sequence data to estimate parameters about human ancestral populations, particularly times of speciations (when new species evolved). The Y chromosome has been analyzed to infer various parameters about human ancestral populations and to provide clues as to human origins. The paper argues that the individual properties of this data source combined with a burgeoning list of refutable assumptions make any and all of these results utterly spurious. The paper argues that molecular experts claim that the old and imprecise science of paleontology has been superseded by their far more mathematically precise methods. These experts sideline the fact that all their estimates are fundamentally based on paleontologically acquired data. The paper includes illustrations and table.
From the Paper "The Y-linked SRY gene triggers mammalian male-determining processes when expressed in the embryonic bipotential gonad. Sex chromosomes are thought to have evolved ~300Mya, probably replacing a mechanism based on gestational ambient temperature. Current opinion is that the Y-chromosomal SRY gene and its X-chromosome homologue (SOX3) are variants diverged from an ancestral non-sex-determining gene. When the ancient SRY-precursor gene gained a dominant and penetrant male-determining function the homologues became sex chromosomes and the process of dramatic degeneration and specialisation of the Y began. Pseudoautosomal regions (PARs) located at the tips of X and Y recombine at high frequency during male meiosis. Consequently, these regions are similar to autosomal sequences in base composition and gene diversity. PARs comprise 5% of the Y and the other 95% makes up the non-recombining region of the Y (NRY). Recombination deficiency of the NRY is thought to result from lack of homology with the X, due to several large inversions. Null mutations accumulate in NRY genes as they are "sheltered" by X-chromosome homologues."
Abstract This paper examines how formation and sustainment of identity in society is dependant on the theory of the sociologist. It shows how there is a general agreement that it develops from an individual's childhood and also depends on how influential parents and peers are especially throughout adolescence. It discusses how the development of gender can be seen as starting out as biological with parents treating the child as the sex their hormones and chromosomes have determined and how the environment and culture could change this. It looks at how this can lead to the emergence of transsexuals in society who think their "true" gender is not their biological one.
From the Paper "Other factors such as nationality also lead to an individual's identity. Jean Phinney (1989) carried out a study on ethnic minority groups in the United States. She found that ethnic identity develops during adolescence starting with a lack of concern of their nationality followed by curiosity in their group's history and customs which leads to a sense of belonging to their group and a development of distinct ethnic self-concept. Phinney found that this differed on the individual and it is also possible that others in society influence this. For example if the mainstream group in which the minority lives amongst in society celebrates certain customs the minority group may also take part in these possibly due to degrees of commerciality in contemporary society."
Abstract This paper examines Fragile X syndrome, also known as Martin-Bell syndrome, one of the most frequently inherited forms/causes of mental retardation. It looks at how the disorder is derived from a genetically inherited, single-gene mutation and how individuals who have Fragile X syndrome have symptoms that are resultant from a mutated gene on the X chromosome. It provides a short introduction, the genetics behind the disease, the mechanisms of the protein production and lack of therapy, diagnosis and symptoms.
From the Paper "The cause of Fragile X all boils down to a change in a single gene: an alteration in the Fragile X Mental Retardation 1 (FMR1) gene. The mutation inactivates the FMR1 gene, which in turn interferes with the process involved in regulating FMRP protein content. This gene is located on the X chromosome, hence the name Fragile X syndrome. Current research indicates that the FMRP protein assists in cellular communication.3 The sex chromosome alleles for males and females are XY and XX, respectively. This establishes an understanding that Fragile X syndrome, involving the X chromosome, is a sex-linked trait. Since males and females contain either one or two X chromosomes, either can pass on the mutated gene to their offspring."
Tags:chromosome, mental, retardation, martin-bell, protein, x, y
Abstract This paper tries to explore the existence of "gay gene". Among several evidences, Hamer et al studies suggest that some genes at Xq28 region of X chromosome may influence the sexual behavior. The result of the study was wrongly presented by the media, which ultimately led to the development of a misconception among people at large, that homosexual behavior was governed by "gay gene". By presenting the facts in a lucid manner the paper tries to break the myth about the existence of "gay gene".
From the Paper "The study was much publicized by the media2 and a layman, not familiar with scientific terms, soon developed a misconception that a gay inherits his homosexual behavior. In this context, Dr. Jeffery Stainover (2002) says, "It is important to note that serious research on the biology, innateness, or genetic determinants of homosexuality has only just recently begun. Exactly opposite to what the public is being led to believe, the research that has been done so far suggests that genetic factors account for, at most, but a small proportion of the risk." (Chapter "The Biology of Homosexuality: Science or Politics")3. Infact, LeVay stressed that his findings did not prove that homosexuality is genetic."
Abstract This paper looks at Mendelian genetics, Mendel's law of segregation and Mendel's law of independent assortment. The paper looks at sex linkage, and gives an example in humans, and looks at karyotyping and its significance. The paper then talks about non-disjunction of homologous chromosomes and its effects.
Tags: Mendelian Genetics, sex linkage, karyotype, nondisjunction of homologous chromosomes
This paper outlines Fragile X disorder with a detailed description of the biological cause of the disorder, as well as an explanation of the subsequent communication disorders
Abstract This paper looks at the debilitating disease called Fragile X Disorder. It examines the physical characteristics of people who suffer from this disorder as well as mental and behavioral problems. It focuses on the specific issue of speech impairments causing communication problems.
From the paper:
"Fragile X is the most common inherited cause of developmental and learning disabilities, affecting as many as one person in every 1,000 (Saunders, 1999). Fragile X is a sex-linked genetic disorder and is named so because of a fragile site on the tip of the long arm of the X chromosome where it looks as if a piece of the chromosome is broken off (Saunders, 1999). The gene responsible for the disorder is Fragile Mental Retardation 1 (FMR-1) and can be diagnosed through DNA testing (Saunders, 1999). The FMR-1 gene becomes faulty due to an expansion of three nucleotides, Cytosine-Guanine-Guanine (CGG), which inhibits the production of the FMR protein; the FMR protein is essential for normal brain development (Symons, et al, 2001). "
Abstract Acute myleocytic leukemia is a cancer of the blood which is heterogenous in nature, making it rather difficult to consistently treat. A rare subtype of acute myelocytic leukemia, acute myelocyticleukemia is characterized by a differentiation block at the myelocyticstage and by a reciprocal translocation affecting chromosomes 15 and 17 (Fielding, et al. 1994). As such, acute myelocytic leukemia has not received as much attention as acute myelocytic leukemia, and had not, until relatively recently, received the kind of research necessary to find effective treatments. This rare blood cancer had been universally fatal until 1985. Since that point, this rare form of cancer has experienced a significant boost in research and treatment. This paper will examine the chromosomal abnormalities which make up acute myelocyticleukemia, current treatments, and current research into acute myelocyticleukemia. The point of the examination is to provide a greater level of understanding into this form of cancer.
