PPT-VI. GENETIC DISORDERS - AUTOSOMAL DISORDERS (pp. 345-348)

Most genes are carried on the chromosomes other than the sex chromosomes These disorders affect males and females and are due to mutations Autosomal disorders can be divided into three groups based on the pattern of inheritance. Also its possible for otherwise healthy people to develop severe illness so any one concerned about their illness should consult their doctor There are emergency warning signs that should signal anyone to seek medical care urgently Emergency Warning A visual representation of how a trait is inherited . through generations. . . Earliest. generations are at the . top. .. Each row is . one generation. . . Circle. = female, . Square. = male. Dark shading . Genetic disorders can be due to any of the following factors:. A. Monogenetic Disorders: Caused by a mutation in a single gene. Autosomal. recessive alleles:. a. You may be a carrier and not know it, since the dominant allele masks the recessive.. A regular human cell has 46 chromosomes: 44 autosomes, which come in pairs, and 2 sex chromosomes, which specify gender (XX for female and XY for male).. The pairs of autosomes are called "homologous chromosomes." One of each pair came from mom and the other came from dad. Homologous chromosomes have all of the same genes arranged in the same order, but with slight differences in the DNA sequences of the genes.. CP Biology. Genetic Disorders. Major types of genetic disorders:. Autosomal. Single genes. Multiple genes. Sex-linked. Chromosome abnormalities. Autosomal Disorders. Autosomal genetic disorders . are caused by alleles on autosomes (chromosomes other than the sex chromosomes). Polydactyly. Down Syndrome. Hemophelia. Progeria. Hypertrichosis. Sickle Cell Anaemia. INTRODUCTION. What is genetic diseases/disorders?. The human body is composed up of cells , each one specializing a particular function like sensing light, smelling . Paediatrics. College of Medicine. K . K. U . Abha. K S A. Common genetic disorders in KSA. Haemoglobinopathies. Neuro. -genetic . diorders. Metabolic disorders. Inborn error of metabolism. Birth defects. Every trait is represented by 2 genes, one from the . father. and the other from the . mother. . When the 2 genes for any given trait are similar, the person is . homozygous . for this trait . If the 2 genes are different, the person is . Mohanad. Mahdi Al-. Hindawi. . Introduction . A . gene. (from ancient Greek: . gonos. : . offspring. , procreation) is a locus (or region) of DNA which is made up of nucleotides.. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. . Chromosomes. Homologous chromosomes. Gene. Exon. Introns . Locus (loci). Alleles. Heterozygous alleles. Homozygous alleles. Genetic . Pathology. Genetic . pathology deals with the diseases that have genetic origin. It is estimated that . A genetic disorder that is caused by abnormality in an individual's DNA. Abnormalities can range from small mutation in a single gene to the addition or subtraction of a whole chromosome or set of chromosomes.. GENETIC. ENVIRONMENTAL. BOTH. CONGENITAL. HEREDITARY. FAMILAL. MUTATIONS. PERMANENT change in DNA. GENE. MUTATION: (may, and often, result in a single base error). CHROMOSOME . MUTATION: (visible chromosome change)part of chromosome. Over the last few decades, a significant transition has taken place in the etiology of diseases affecting mankind. Environmentally related disorders have decreased & genetic disorders & non-communicable disorders have become a major cause of morbidity and mortality. TERMINOLOGY OF GENETIC AND CONGENITAL DISORDERS. Congenital. Allele. Gene locus. Gene mutation. Genotype. Phenotype. Homozygous. Heterozygous. Polymorphism. Gene penetrance. Gene expression. CAUSES OF BIRTH DEFECTS.