PPT-X-Linked Recessive Disorders

Most common Xlinked disorders Usually expressed only in males Rarely due to random Xinactivation a female will express disease called manifesting heterozygotes Pattern Of Inheritance. Have you taken the latest quiz?. When is your next paper due?. If you are not sure, you need to. Discover Biology. FIFTH EDITION. CHAPTER. . 13. Chromosomes and Human. Genetics. © . 2012 W. W. Norton & Company, Inc.. Mendelian. Inheritance. Genetics 202. Jon Bernstein. Department of Pediatrics. October 1. st. , 2015. Learning Goals. Understand that . different molecular . testing methodologies detect different types of mutation. Julie A. Dunlap, MS, CCC-SLP. SPHSC . 543. Winter 2010. Genetic Diseases. ~3-4% of all children are born with a major genetic or congenital disease . Not only extremely rare diseases. Importance of correct diagnosis. X-LINKED DOMINANT INHERITANCE. X-LINKED INHERITANCE. dr. . Retno. . Sutomo. , Ph.D., . Sp.A. .. X-LINKED RECESSIVE INHERITANCE. Segregation of X-linked recessive allele. Carrier mother. Segregation of X-linked recessive allele. 1 Sex-linked DisordersBiologySex-Linked TraitsSex-linked traits are produced by genes only on the X chromosome They can be Dominant or RecessiveA dominant a recessiveWhat would be the genotypes of Two copies of each autosomal gene affect phenotype.. Mendel studied autosomal gene traits, like hair texture. . Mendel. ’. s rules of inheritance apply to autosomal genetic disorders.. A heterozygote for a recessive disorder is a carrier. . 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 . Definition . Allelle. is . an alternative form of a . gene . (one member of a pair) that is located at a specific position on a specific . chromosome. . These DNA coding . determine distinct traits that can be passed on from parents to offspring. . 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.. For Premedical Student. 1438-1439H. Zoology Department. Lecture 24 : . Genetics. (. The Chromosomal Basis. of Inheritance). Objectives. Section B: Sex Chromosomes.. Some chromosomal systems of sex determination.. Early ideas about genetics. Hippocrates:. Pangenesis. Particles (. pangenes. ) from each part of the body moved to the egg and sperm. Changes in organisms over their lifetime would be passed on to offspring . Incomplete Dominance . – blending of red and white to form the pink phenotype of the four o’clock flower . Chapter 14. Human Genetics. Sec. 14-1 Human Heredity. Human Traits. Pedigree. : chart that shows the genetic relationships within a family & how traits are passed from one generation to another. Human inheritance involves more issues than pea plants. Relatively few traits follow a Mendelian inheritance . pattern, but we cannot . ethically perform test . crosses. Most human traits are polygenic.