Pathogenetics. an Introductory Review
Total Page:16
File Type:pdf, Size:1020Kb
Load more
Recommended publications
-
But Broke Down More Frequently Than Those Stabilised by Natural Degree
HYBRIDITY SELECTION IN CAMPANULA C. D. DARLINGTON and L. F. LA COUR John Innes Horticultural Institution, Bayfordbury, Hert ford, Herts. Received25.Viii.49 CONTENTS I. Introduction . .217 2. Building Newlypes . .218 3. Ring-Formation and the Hybridity Optimum . .219 4. Analytic Crosses . .222 5. Unbalanced Types . .224 6. Fertility and the Breeding System . .226 7. New Interchanges . .227 8. The Stable Telocentric . .228 9. Telocentrics and Interchanges . 230 10. A Monosomic Plant . 231 II. New Telocentrics and Isochromosomes . .233 12. The Origin of lsochromosomes . .237 13. Pollen-Grain Inheritance . .239 14. The Future of lsochromosomes . .240 IS. The Evolution of Chromosome Numbers . 241 16. Conclusions . .242 17. Summary . 243 18. References . .246 Appendix: Compound Constrictions by L. F. La Cour 243 I. INTRODUCTION INour first account of ring formation in Campanula persicfo1ia (Gairdner and Darlington, 1931)weshowed how mechanical rules could be applied for the construction of plants with large rings at meiosis by the combination of interchanged chromosomes found in wild races. In our second account (Darlington and Gairdner, 1937)weshowed how large rings were maintained by the elimination of homozygotes but broke down more frequently than those stabilised by natural selection in Oenothera, owing to the occurrence of crossing-over between interstitial segments in opposite complexes. We also showed the high degree of structural hybridity in regard to inversions which was correlated with interchange hybridity in a cross-fertilising species. Our present object is to make use of the interchanges and other break- ages as markers in determining how hybridity is maintained by selection in the species, in other words how the breeding system works. -
Chromosome 18
Chromosome 18 Description Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 18, one copy inherited from each parent, form one of the pairs. Chromosome 18 spans about 78 million DNA building blocks (base pairs) and represents approximately 2.5 percent of the total DNA in cells. Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 18 likely contains 200 to 300 genes that provide instructions for making proteins. These proteins perform a variety of different roles in the body. Health Conditions Related to Chromosomal Changes The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 18. Distal 18q deletion syndrome Distal 18q deletion syndrome occurs when a piece of the long (q) arm of chromosome 18 is missing. The term "distal" means that the missing piece (deletion) occurs near one end of the chromosome arm. The signs and symptoms of distal 18q deletion syndrome include delayed development and learning disabilities, short stature, weak muscle tone ( hypotonia), foot abnormalities, and a wide variety of other features. The deletion that causes distal 18q deletion syndrome can occur anywhere between a region called 18q21 and the end of the chromosome. The size of the deletion varies among affected individuals. The signs and symptoms of distal 18q deletion syndrome are thought to be related to the loss of multiple genes from this part of the long arm of chromosome 18. -
Abstracts from the 51St European Society of Human Genetics Conference: Electronic Posters
European Journal of Human Genetics (2019) 27:870–1041 https://doi.org/10.1038/s41431-019-0408-3 MEETING ABSTRACTS Abstracts from the 51st European Society of Human Genetics Conference: Electronic Posters © European Society of Human Genetics 2019 June 16–19, 2018, Fiera Milano Congressi, Milan Italy Sponsorship: Publication of this supplement was sponsored by the European Society of Human Genetics. All content was reviewed and approved by the ESHG Scientific Programme Committee, which held full responsibility for the abstract selections. Disclosure Information: In order to help readers form their own judgments of potential bias in published abstracts, authors are asked to declare any competing financial interests. Contributions of up to EUR 10 000.- (Ten thousand Euros, or equivalent value in kind) per year per company are considered "Modest". Contributions above EUR 10 000.- per year are considered "Significant". 1234567890();,: 1234567890();,: E-P01 Reproductive Genetics/Prenatal Genetics then compared this data to de novo cases where research based PO studies were completed (N=57) in NY. E-P01.01 Results: MFSIQ (66.4) for familial deletions was Parent of origin in familial 22q11.2 deletions impacts full statistically lower (p = .01) than for de novo deletions scale intelligence quotient scores (N=399, MFSIQ=76.2). MFSIQ for children with mater- nally inherited deletions (63.7) was statistically lower D. E. McGinn1,2, M. Unolt3,4, T. B. Crowley1, B. S. Emanuel1,5, (p = .03) than for paternally inherited deletions (72.0). As E. H. Zackai1,5, E. Moss1, B. Morrow6, B. Nowakowska7,J. compared with the NY cohort where the MFSIQ for Vermeesch8, A. -
The Cytogenetics of Hematologic Neoplasms 1 5
The Cytogenetics of Hematologic Neoplasms 1 5 Aurelia Meloni-Ehrig that errors during cell division were the basis for neoplastic Introduction growth was most likely the determining factor that inspired early researchers to take a better look at the genetics of the The knowledge that cancer is a malignant form of uncon- cell itself. Thus, the need to have cell preparations good trolled growth has existed for over a century. Several biologi- enough to be able to understand the mechanism of cell cal, chemical, and physical agents have been implicated in division became of critical importance. cancer causation. However, the mechanisms responsible for About 50 years after Boveri’s chromosome theory, the this uninhibited proliferation, following the initial insult(s), fi rst manuscripts on the chromosome makeup in normal are still object of intense investigation. human cells and in genetic disorders started to appear, fol- The fi rst documented studies of cancer were performed lowed by those describing chromosome changes in neoplas- over a century ago on domestic animals. At that time, the tic cells. A milestone of this investigation occurred in 1960 lack of both theoretical and technological knowledge with the publication of the fi rst article by Nowell and impaired the formulations of conclusions about cancer, other Hungerford on the association of chronic myelogenous leu- than the visible presence of new growth, thus the term neo- kemia with a small size chromosome, known today as the plasm (from the Greek neo = new and plasma = growth). In Philadelphia (Ph) chromosome, to honor the city where it the early 1900s, the fundamental role of chromosomes in was discovered (see also Chap. -
Molecular‑Cytogenetic Study of De Novo Mosaic Karyotype 45,X/46,X,I(Yq)/46,X,Idic(Yq) in an Azoospermic Male: Case Report and Literature Review
MOLECULAR MEDICINE REPORTS 16: 3433-3438, 2017 Molecular‑cytogenetic study of de novo mosaic karyotype 45,X/46,X,i(Yq)/46,X,idic(Yq) in an azoospermic male: Case report and literature review YUTING JIANG1, RUIXUE WANG1, LINLIN LI1, LINTAO XUE2, SHU DENG1 and RUIZHI LIU1 1Center for Reproductive Medicine, Center for Prenatal Diagnosis First Hospital, Jilin University, Changchun, Jilin 130021; 2Reproductive Medical and Genetic Center, People's Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 520021, P.R. China Received August 11, 2016; Accepted May 9, 2017 DOI: 10.3892/mmr.2017.6981 Abstract. The present study describes a 36-year-old male carries one centromere and duplication of the short or long with the 45,X/46,X,i(Yq)/46,X,idic(Yq) karyotype, who arm, and the idic(Y) consists of two identical arms that are suffered from azoospermia attributed to maturation arrest of positioned as mirror images to one another, with an axis of the primary spermatocyte. To the best of our knowledge, this symmetry lying between two centromeres (3). The two types rare karyotype has not yet been reported in the literature. The of chromosome are often unstable during cell division. results of detailed molecular-cytogenetic studies of isodicen- Patients with iso(Y) or idic(Y) may develop mosaic tric (idic)Y chromosomes and isochromosome (iso)Y, which karyotypes with variable phenotypes, such as spermatogenic are identified in patient with complex mosaic karyotypes, are failure, sexual infantilism, hypospadias, ambiguous genitalia, presented. The presence of mosaicism of the three cell lines and a normal male phenotype (4). -
Chromosome 17
Chromosome 17 Description Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 17, one copy inherited from each parent, form one of the pairs. Chromosome 17 spans about 83 million DNA building blocks (base pairs) and represents between 2.5 and 3 percent of the total DNA in cells. Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 17 likely contains 1, 100 to 1,200 genes that provide instructions for making proteins. These proteins perform a variety of different roles in the body. Health Conditions Related to Chromosomal Changes The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 17. 17q12 deletion syndrome 17q12 deletion syndrome is a condition that results from the deletion of a small piece of chromosome 17 in each cell. Signs and symptoms of 17q12 deletion syndrome can include abnormalities of the kidneys and urinary system, a form of diabetes called maturity-onset diabetes of the young type 5 (MODY5), delayed development, intellectual disability, and behavioral or psychiatric disorders. Some females with this chromosomal change have Mayer-Rokitansky-Küster-Hauser syndrome, which is characterized by underdevelopment or absence of the vagina and uterus. Features associated with 17q12 deletion syndrome vary widely, even among affected members of the same family. Most people with 17q12 deletion syndrome are missing about 1.4 million DNA building blocks (base pairs), also written as 1.4 megabases (Mb), on the long (q) arm of the chromosome at a position designated q12. -
Dicentric X Isochromosomes in Man R
J Med Genet: first published as 10.1136/jmg.13.6.496 on 1 December 1976. Downloaded from Journal of Medical Genetics (1976). 13, 496-500. Dicentric X isochromosomes in man R. T. HOWELL, S. H. ROBERTS, and R. J. BEARD From the Child Health Laboratories, Department of Child Health, University Hospital of Wales, Heath Park, Cardiff Summary. Four cases of Turner's syndrome are presented in which an appa- rent X isochromosome i(Xq) has been found to possess two regions of centromeric heterochromatin. It is suggested that these chromosomes were isodicentric struc- tures capable offunctioning as monocentric elements as a result ofthe inactivation of one centromere. The prevalence of mosaicism is believed to be a consequence of the dicentric nature ofthese chromosomes, and it is considered possible that a high proportion of X isochromosomes are structurally dicentric. Banding patterns showed that the exchange site involved in the formation ofthe dicentric chromosome was different in at least three ofthe cases. The possibility that certain X isochromosomes Methods were dicentric was first postulated by de la Chapelle Chromosome preparations were made from peripheral et al (1966). In 2 of 5 cases investigated they noted blood lymphocyte cultures ofall 4 patients using standard that the isochromosome had an apparently elon- procedures. Preparations from skin fibroblast cultures an gated centromeric region. In 3 cases they found (Cases 1 and 2) and ovarian tissue culture (Case 3)copyright. abnormal anaphase configurations such as bridges, were also investigated. Slides were either stained with pseudochiasmata, and lagging chromosomes, indica- aceto-orcein in order to examine chromosome morpho- tive of the presence of a dicentric chromosome. -
Cytogenetics and Molecular Genetics of Childhood Brain Tumors 1
Neuro-Oncology Cytogenetics and molecular genetics of childhood brain tumors 1 Jaclyn A. Biegel 2 Division of Human Genetics and Molecular Biology, The Children’s Hospital of Philadelphia and the Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104 Considerable progress has been made toward improving Introduction survival for children with brain tumors, and yet there is still relatively little known regarding the molecular genetic Combined cytogenetic and molecular genetic approaches, events that contribute to tumor initiation or progression. including preparation of karyotypes, FISH, 3 CGH, and Nonrandom patterns of chromosomal deletions in several loss of heterozygosity studies have led to the identica- types of childhood brain tumors suggest that the loss or tion of regions of the genome that contain a variety of inactivation of tumor suppressor genes are critical events novel tumor suppressor genes and oncogenes. Linkage in tumorigenesis. Deletions of chromosomal regions 10q, analysis in families, which segregate the disease pheno- 11 and 17p, for example, are frequent events in medul- type, and studies of patients with constitutional chromo- loblastoma, whereas loss of a region within 22q11.2, somal abnormalities have resulted in the identication of which contains the INI1 gene, is involved in the develop- many of the disease genes for which affected individuals ment of atypical teratoid and rhabdoid tumors. A review have an inherited predisposition to brain tumors (Table of the cytogenetic and molecular genetic changes identi- 1). The frequency of mutations of these genes in sporadic ed to date in childhood brain tumors will be presented. tumors, however, is still relatively low. -
Identification of Isochromosome 1Q As a Recurring Chromosome Aberration in Skull Base Chordomas: a New Marker for Aggressive Tumors?
Neurosurg Focus 10 (3):Article 6, 2001, Click here to return to Table of Contents Identification of isochromosome 1q as a recurring chromosome aberration in skull base chordomas: a new marker for aggressive tumors? JEFFREY R. SAWYER, PH.D., MUHAMMAD HUSAIN, M.D., AND OSSAMA AL-MEFTY, M.D. Departments of Pathology and Neurosurgery, University of Arkansas for Medical Sciences; and Cytogenetics Laboratory, Arkansas Children's Hospital, Little Rock, Arkansas Object. The authors conducted a study of 22 skull base chordomas. Methods. A series of 22 skull base chordomas was analyzed with G banding. Subsequently, metaphase cells ob- tained from three tumors were reexamined using multicolor spectral karyotyping. Clonal chromosome aberrations were identified in 11 cases, all of which were recurrent tumors. Three tumors showed a remarkable similarity in cyto- genetic features, and these features appear to characterize a recurring combination of nonrandom chromosome aberra- tions, including isochromosome 1q, gain of chromosome 7, and monosomy for chromosomes 3, 4, 10,13, and 18. Isochromosome 1q was identified as the sole recurring structural chromosome rearrangement in these tumors. The pat- tern of chromosome loss reported in the progression of lumbosacral chordoma also appears to be true of skull base chordomas with the additional findings of isochromosome 1q, gain of chromosome 7, and loss of chromosome 18. Conclusions. Skull base chordomas characterized by isochromosome 1q and monosomy 13 provide support for the concept of the loss of putative tumor suppressor loci on 1p and 13q and aggressive tumor behavior. KEY WORDS • chordoma • chromosome aberration • isochromosome 1q • spectral karyotyping • cytogenetics Chordomas are locally invasive bone tumors that ap- 9,13,18,21 In most cases either normal karyotypes or hypo- pear in adulthood and are thought to originate from the diploidy with complex structural aberrations have been remnants of the notochord. -
Detection of Mitochondrial DNA Mutations in the Tumor and Cerebrospinal Fluid of Medulloblastoma Patients1
[CANCER RESEARCH 63, 3866–3871, July 15, 2003] Advances in Brief Detection of Mitochondrial DNA Mutations in the Tumor and Cerebrospinal Fluid of Medulloblastoma Patients1 Lee-Jun C. Wong,2 Maria Lueth,2 Xiao-Nan Li, Ching C. Lau,3 and Hannes Vogel Institute for Molecular and Human Genetics, Georgetown University, Washington, DC, 20007 [L-J. C. W., M. L.]; Division of Hematology/Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030 [X-N. L., C. C. L.]; and Department of Pathology, Stanford University Medical Center, Stanford, California 94305 [H. V.] Abstract require respiratory chain activity and can occur independently of the mitochondrial apoptosis pathway (6). Because the net growth of Medulloblastoma is the most common malignant brain tumor in chil- medulloblastomas represents a balance between cell division and dren. Although the prognosis has improved considerably, leptomeningeal apoptosis, the role of mitochondria in energy metabolism and apo- spread of the tumor remains a significantly negative predictor of survival. ptosis is likely to be of importance in understanding both the biology Mitochondrial DNA (mtDNA) mutations have been detected in many types of human tumors but not in medulloblastomas. Using temporal of medulloblastoma and as a potential target of therapy. 4 temperature gradient gel electrophoresis, we have analyzed the entire In an increasing list of diverse neoplasms, mtDNA alterations have mitochondrial genome in 15 cases of medulloblastoma and the corre- been documented (7). These have proven to be of interest as tumor sponding cerebrospinal fluid (CSF) samples in 8 of 15 cases. Six of 15 cases markers and as evidence that they may play a role in neoplastic (40%) showed at least one mtDNA mutation in each of the tumors. -
Variants and Health
Help Me Understand Genetics Variants and Health Reprinted from MedlinePlus Genetics U.S. National Library of Medicine National Institutes of Health Department of Health & Human Services Table of Contents 1 What is a gene variant and how do variants occur? 1 2 How can gene variants affect health and development? 3 3 Do all gene variants affect health and development? 4 4 What kinds of gene variants are possible? 6 5 Can a change in the number of genes affect health and development? 12 6 Can changes in the number of chromosomes affect health and development? 13 7 Can changes in the structure of chromosomes affect health and development? 19 8 Can changes in noncoding DNA affect health and development? 26 9 Can changes in mitochondrial DNA affect health and development? 28 10 What are complex or multifactorial disorders? 29 11 What does it mean to have a genetic predisposition to a disease? 30 12 How are gene variants involved in evolution? 32 13 What information can statistics provide about a genetic condition? 34 Reprinted from MedlinePlus Genetics (https://medlineplus.gov/genetics/) i 14 How are genetic conditions and genes named? 36 Reprinted from MedlinePlus Genetics (https://medlineplus.gov/genetics/) ii Variants and Health 1 What is a gene variant and how do variants occur? A gene variant is a permanent change in the DNA sequence that makes up a gene. This type of genetic change used to be known as a gene mutation, but because changes in DNA do not always cause disease, it is thought that gene variant is a more accurate term. -
Development of a Database on Mitochondrial Gene Order, Rearrangement Events and Their Evolutionary Implications
DEVELOPMENT OF A DATABASE ON MITOCHONDRIAL GENE ORDER, REARRANGEMENT EVENTS AND THEIR EVOLUTIONARY IMPLICATIONS Project Report submitted in partial fulfillment of the Degree of Bachelor of Technology In Bioinformatics Under the Supervision of Dr. Tiratha Raj Singh By Aakanksha Srivastava (101511) Harpriya Arora (101503) To Department of Biotechnology & Bioinformatics Jaypee University of Information Technology Waknaghat, Solan-173234, Himachal Pradesh ABSTRACT Databases hold vast importance in the field Research and Development. This statement implies that databases are important for the retrieval of data. Any kind of data that the scientific community works upon is usually downloaded from the internet. Hence, we aim to develop such kind of a database that helps the scientific community to extract and utilize the data in an effective way. Mitochondrial Gene Order Database (MGOD) is one such database that has never existed in the past. It aims to capture various details of the mitochondrial genome in organisms. It exhibits manually curated data that is present in a comprehensive manner. It is a public database i.e. it is freely accessible for everyone all over the world. The web address of the database is www.bioinfoindia.org/mgod. We aim to present a comprehensive database which could help in efficient extraction of information regarding the mitochondrial genome. The reason for developing such kind of a database is that it is the first database to incorporate such information. Plus, mitochondrial genome holds great importance in the field of Research & Development. Mitochondrial genome plays great role in phylogenetic studies. Hence, such kind of a database would be helpful to provide information that could be easily accessed and utilised.