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Genetics in Dentistry
GP Pal, Niladri Kumar Mahato
SECTION 1: ESSENTIALS OF HUMAN GENETICS
CHAPTER 1:
Introduction and Mendel's Laws of Inheritance
DEFINITION OF GENETICS
DIVISIONS OF GENETICS
CLASSIFICATION OF GENETIC DISEASES
GENETICS IN DENTISTRY
Tooth Agenesis
Dental Caries
Craniofacial Syndromes
Cleft Lip, Cleft Palate and Cancers
MENDEL AND HIS LAWS OF INHERITANCE
THE PEA PLANTS EXPERIMENTS
Explaining Certain Terms
Monohybrid Crosses Experiments
Dihybrid Crosses Experiments
MENDEL'S LAWS
The Law of Uniformity
The Law of Segregation
The Law of Independent Assortment
SUMMARY
CHAPTER 2:
Chromosomes and their Classification
INTRODUCTION TO HUMAN CHROMOSOMES
Chromosomal Size and Shape
Chromosomal Structure
CLASSIFICATION OF CHROMOSOMES AND ANALYSIS
Classification
CHROMOSOMAL ANALYSIS
Banding of Chromosomes
G-banding
Q-banding
R-banding
C-banding
Fluorescent in situ Hybridization (FISH)
Centromeric Probe
Chromosome Specific Unique Probe
Whole Chromosome Paint Probe
Multicolor Spectral Karyotyping
SEX CHROMATIN
Barr Body and the Drumstick are Features of the Female Nuclei
LYON'S HYPOTHESIS
Features of Lyonization
The Importance of X Inactivation
SUMMARY
CHAPTER 3:
Structure of DNA and RNA
STRUCTURE AND PACKAGING OF DNA
REPLICATION OF DNA
MITOCHONDRIAL DNA
STRUCTURE OF RIBONUCLEIC ACID (RNA)
SUMMARY
CHAPTER 4:
Structure and Function of Genes
MOLECULAR STRUCTURE OF GENES
Some details of DNA Sequences
Genic DNA
Extragenic DNA
GENETIC CODE
TRANSCRIPTION
Process of Transcription in Brief
Steps in the Process of Transcription
ALTERNATIVE SPLICING
TRANSLATION
Messenger RNA
Ribosome
Transfer RNA
Initiation
Elongation
Termination
GENE EXPRESSION AND ITS REGULATION
Basic Control of Gene Expression
GENETIC MUTATION, ITS TYPES AND MUTAGENS
Somatic and Germinal Mutation
“Loss of Function Mutation”
“Gain of Function Mutation”
Molecular Basis of Gene Mutation (Point mutation)
Substitution
Frame Shift Mutation
Mutagens
MECHANISM OF DNA REPAIR
SUMMARY
CHAPTER 5:
Chromosomal Anomalies
NUMERICAL ANOMALIES
Mechanisms of Numerical Anomalies
Consequences of Nondisjunction (trisomy and monosomy)
Causes of Nondisjunction
NUMERICAL ABNORMALITIES OF AUTOSOMES
Trisomy 21 (Down's Syndrome or Mongolism)
Characteristics of the Disease
Counseling
Trisomy 13: Patau's Syndrome
Characteristics of the Disease
Numerical Abnormalities of the Sex Chromosomes
Turner Syndrome, 45, XO
Characteristics of the Disease
Genetic Characteristics and Counseling
47, XXY: Klinefelter Syndrome
Characteristics of the Disease
Genetic Characteristics and Counseling
47, XYY Males
Characteristics of the Disease
STRUCTURAL ANOMALIES
Karyotype Symbols
(a) Chromosomal Deletion
(i) Microscopic or Chromosomal Deletion
CRI-DU-CHAT SYNDROME
Characteristics of the Disease
(ii) Submicroscopic Microdeletions
(b) Chromosomal Inversion
(c) Ring Chromosomes
(d) Isochromosomes
(e) Chromosomal Translocation
(i) Reciprocal Translocations
(ii) Robertsonian Translocation
EXISTENCE OF DIFFERENT CELL LINES (MOSAICISM / CHIMERISM)
Chromosomal Mosaic or Mosaicism
Causes of Mosaicism
Chimeras
SUMMARY
CHAPTER 6:
Patterns of Inheritance and Disorders of Genes
SINGLE GENE (MENDELIAN/MONOGENIC) INHERITANCE
Autosomal Dominant Inheritance
Distinctive Features of an Autosomal Dominant (AD) Trait
Common Autosomal Dominant Disorders
Autosomal Recessive Inheritance
Distinctive Features of an Autosomal Recessive (AR) Inheritance
Some Common Autosomal Recessive Disorders
Sex-linked Inheritance
Meaning and it Variance
Distinctive Features of X-linked Recessive Inheritance
Some Common X-linked Recessive Disorders
MITOCHONDRIAL INHERITANCE
MULTIPLE GENES (POLYGENIC/MULTIFACTORIAL) INHERITANCE
SOME IMPORTANT TERMS COMMONLY USED IN RELATION TO GENETIC INHERITANCE
SUMMARY
CHAPTER 7:
Genetics of Immunity
CONCEPT OF IMMUNE MECHANISMS
System of Immunity
Components of Immunity
(1) T-cell Immunity or Cell Mediated Immunity
(2) B-cell Immunity or Humoral Immunity
Functioning Components of the B-cell Immunity
Antibody
Antigen
Basics of Immune Response
Complement System
Diversity of Immune Response
STRUCTURE OF IMMUNOGLOBULINS
Determination of Diversity in an Antibody
IMMUNODEFICIENCY DISORDERS
Severe Combined Immunodeficiency (Swiss-type Autosomal Recessive Agammaglobulinemia)
Characteristics of the Disease
Thymic Agenesis (Di George Syndrome)
Characteristics of the Disease
TRANSPLANTATION OF TISSUES
HLA and Disease
SUMMARY
CHAPTER 8:
Molecular Control of Development
MOLECULAR PROCESSES IN DEVELOPMENT
1. Growth and Differentiation Signaling Molecules
Growth Factors and their Functions
2. Growth Factor Receptors
3. Signal Transduction
4. Transcription Factors
A BRIEF ACCOUNT OF THE MOLECULAR CONTROL OF EARLY EMBRYONIC DEVELOPMENT
1. Establishment of the Axes of Embryo
2. Segmentation
3. Determination of Regional Characteristics
SUMMARY
SECTION 2: GENETICS IN DENTISTRY
CHAPTER 9:
Methods of Genetic Analysis
IDENTIFICATION OF HERITABLE DENTAL PATHOLOGY
SEGREGATION ANALYSIS
TWIN STUDIES
LINKAGE ANALYSIS
ASSOCIATION STUDIES
Genome-wide Association Studies
Method to Carry out the Genome-wide Association Studies
CHAPTER 10:
Genetics of Developmental Disorders of Teeth
MOLECULAR (GENETIC) CONTROL OF DEVELOPMENT OF TOOTH
TOOTH AGENESIS
Classification of Tooth Agenesis
Etiology of Tooth Agenesis
Genetics of Tooth Agenesis
Mode of Inheritance of Tooth Agenesis
SUPERNUMEraRY TEETH OR HYPerDONTIA
TAURODONTISM
AMELOGENESIS IMPERFECTA
Characteristics of Various Types of AI (Figs 10.11 and 10.12)
Hypoplastic type of AI
Hypomaturation Type of AI
Hypocalcified Type of AI
Hypomaturation/Hypoplastic/Taurodontism Type of AI
Genetics of AI
How is AI Produced?
ENAM
AMELX
MMP20
KLK-4
DLX3
DENTINOGENESIS IMPERFECTA
Genetics of DGI
Treatment
DENTINE DYSPLASIA
Genetics of DD type II
HYPOPHOSPHATASIA
Mode of Inheritance
CHAPTER 11:
Genetics of Craniofacial Disorders and Syndromes
MOLECULAR REGULATION OF THE DEVELOPMENT OF FACE
ECTODERMAL DYSPLASIA
Pathophysiology
Hypohidrotic ED
Clinical Features
Genetics of Hypohidrotic ED
Hidrotic ED
Clinical features
AEC (Hay-Wells) Syndrome
Clinical Features
EEC Syndrome
Clinical Features
Treatment
HOLOPROSENCEPHALY
Signs and Symptoms
Causes of HPE
Environmental Causes
Genetic Causes
Nonsyndromic HPE
Treatment of HPE
MANDIBULOFACIAL DYSOSTOSIS (TREACHER COLLINS-FRANCESCHETTI SYNDROME)
Clinical Features
Genetics
CLEIDOCRANIAL DYSPLASIA
Clinical Features
Skull
Shoulder Girdle
Face
Genetics
APERT SYNDROME (ACROCEPHALOSYNDACTYLY)
Clinical Features
Genetics
CROUZON SYNDROME (CRANIOFACIAL DYSOSTOSIS)
Clinical Features (Fig. 11.11)
Genetics
Treatment
PFEIFFER SYNDROME
Clinical Features
Genetics
Treatment
Differential Diagnosis
CHERUBISM
Clinical Features
Genetics
Treatment
VAN DER WOUDE SYNDROME
Clinical Features
Genetics
Treatment
GORLIN-GOLTZ SYNDROME
Clinical Features
Major Criteria
Minor Criteria
Genetics
WaARdENBURG SYNDROME (WS)
Clinical Features
Types of WS
Genetics
Treatment
OSTEOGENESIS IMPERFECTA
Genetics of OI
Mutation of COL1A1 Gene
Mutation of COL1A2 Gene
Mutation of CRTAP Gene
Mutation of LEPRE 1 Gene
Treatment
DOWN's SYNDROME
ACHONDROPLASIA
CHAPTER 12:
Genetics of Cleft Lip and Cleft Palate
MOLECULAR REGULATION OF THE DEVELOPMENT OF THE PALATE
ETIOLOGY OF CLEFT LIP AND CLEFT PALATE
NONGENETIC (ENVIRONMENTAL) RISK FACTORS
SYNDROMIC FORM OF CL/P AND CP
Genetic Mechanism for Syndromic Form of Clefting
NONSYNDROMIC CLEFTING
CHAPTER 13:
Genetics of Dental Caries
TWIN STUDIES
How We Come to Know that Genetics Plays a Role in the Etiology of Caries
RISK FACTORS IN DENTAL CARIES
MICROORGANISMS OF THE ORAL CAVITY AND HOST IMMUNE RESPONSE
Association between HLA Antigens and Susceptibility to Dental Caries
CARIOGENIC DIET
ROLE OF SALIVA IN PROTECTION AGAINST CARIES
MORPHOLOGY OF TOOTH AND COMPOSITION OF ENAMEL MATRIX
THE SEARCH OF CANDIDATE GENE(S) FOR DENTAL CARIES
CHAPTER 14:
Genetics of Periodontitis
FAMILIAL AGGREGATION OF PERIODONTAL DISEASES
SEGREGATION ANALYSIS
TWIN STUDIES
LINKAGE STUDIES for PERIODONTITIS
ASSOCIATION STUDIES FOR PERIODONTITIS
Association of HLA (Human Leukocyte Antigens) with Periodontitis
Association between Periodontitis and Interleukin-1 (IL-1) Gene Polymorphism
Tumor Necrosis Factor (TNF-α) and Periodontitis
Association between Neutrophil IgG Receptor (FcγR) Polymorphism and Periodontitis
Association between IgG2 Production and Periodontitis
Associations between Polymorphism in Matrix Metalloproteinase, Cathepsin C and Vit D Receptor with Periodontitis
SYNDROMIC FORM OF PERIODONTITIS
1. Neutrophil Functional Disorders
(a) Leukocyte Adhesion Deficiency Syndromes (LAD Syndromes)
(b) Chédiak-Higashi Syndrome
2. Deficiency in Neutrophil Number (Neutropenias)
3. Genetic Defects of Structural Components
(a) Papillion-Lefèvre Syndrome (PLS)
(b) Ehlers-Danlos Syndrome (EDS)
(c) Hypophosphatasia
(d) Kindler Syndrome
CHAPTER 15:
Genetics of Malocclusion
FAMILY AND TWIN STUDIES
LINKAGE STUDIES
CHAPTER 16:
Genetics of Cancer
CHARACTERISTICS OF CANCER CELLS
Factors Responsible for the Causation of Cancer
Environmental Factors of Cancer
Production of Cancer by Carcinogens
The Production of Cancer by a Carcinogen Involves a Multistep Process
What is Cell Proliferation and How is it Controlled?
SIGNAL TRANSDUCTION IN CELL PROLIFERATION
SIGNAL TRANSDUCTION (GENES AND CANCER)
CELL CYCLE CONTROL
The Cell Cycle
Cell Cycle Checkpoints
How is Cell Division (Cycle) Controlled?
CELL CYCLE CONTROL GENES AND CANCER
VIRUSES AND CANCER GENES
Retroviruses
How Viral Oncogenes are Formed
Conversion of Proto-oncogenes to Cellular Oncogenes (c-onc)
APOPTOSIS
SUMMARY
SECTION 3: ADVANCEMENTS IN GENETICS
CHAPTER 17:
Gene Therapy in Dentistry
COMMON STRATEGIES TO TREAT GENETIC DISEASES
Prenatal Treatment
Postnatal Treatment
Supplementing a Gene Product
Treating with Drugs
Transplantation or Removal of Tissue
Stem Cell Transplantation
CONCEPT OF GENE THERAPY AND ITS APPLICATIONS
Gene Therapy Involves the Following Steps
Identification of the Defective Gene
Cloning of Normal Healthy Gene
Identification of Target Cell/Tissue/Organ
The Method of Insertion of a Normal Functional Gene in the Host DNA
Characteristics of Different Viruses used in Gene Transfer
APPLICATIONs OF GENE THERAPY IN DENTISTRY
Use in Bone Repair
Use in Salivary Glands
Use in Pain Management
Use in Periodontal Diseases
Use in Keratinocytes
Use in Cancers of the Head and Neck
Use in Growing New Teeth
Other Modalities of Bone Repair with Gene Therapy
Use in Periodontal Vaccination
Genetic Approach to Biofilm Antibiotic Resistance
Use in Alveolar Remodeling
Used in Antimicrobial Control Disease Progression
Constraints and Limitations of Genetic Therapy
SUMMARY
CHAPTER 18:
Techniques Used in Genetics
RECOMBINANT DNA TECHNOLOGY
Idea of Recombination from the Nature
Process of Recombinant DNA Technique
Production of the DNA Fragment
Processing of the Vector
Integration or Recombination of Desired DNA Fragment with the DNA of Vector
Transfer of Recombinant Vector to Host Organism
Screening of Recombinant Vectors
Screening of Clones with Specific DNA Sequence
Some Important Applications of Recombinant DNA Technology
POLYMERASE CHAIN REACTION
Concept of PCR Technique
NUCLEIC ACID PROBES
Detection of DNA Segments with Nucleic Acid Hybridization
Southern Blotting
DNA SEQUENCING OF GENE OR A DNA SEGMENT
Dideoxy Chain Termination Method (enzymatic)
Automatic Sequencers
DNA FINGERPRINTING
The DNA Fingerprinting Technique
HUMAN GENOME PROJECT
STEM CELL RESEARCH
PRENATAL DIAGNOSIS, TECHNIQUES AND GENETIC COUNSELLING
Indications for Prenatal Diagnosis and Techniques
Amniocentesis
Chorionic Villus Sampling
Ultrasonography
Serum Screening in the Mother and Blood Sampling in the Fetus
Genetic Counselling
DIAGNOSIS OF GENETIC DISEASE
MANAGEMENT OF GENETIC DISEASE
INDEX
TOC
Index
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