X linked recessive disorder
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This document discusses X-linked recessive disorders. Key points include: - X-linked recessive disorders are passed down through families on the X chromosome. - Males are usually affected because they only have one X chromosome, so only one abnormal gene is needed to cause the disease. - Females can be carriers and pass the abnormal gene to their sons but usually do not show symptoms themselves because they have a second normal X chromosome.
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X linked recessive disorder
- 1. X-Linked Recessive Disorder Md. Tangigul Haque Reg. No. : 2011433023
- 2. • Passed down through families through one of the X chromosomes • If only one gene in the pair is abnormal, the disease does not occur or it is mild • Someone who has one abnormal gene is called a carrier • Carriers can pass abnormal genes to their children • The term X-linked recessive usually refers to “Sex-linked recessive”.1 Reference:1. Fogel BL, Geschwind DH. In: Daroff RB, Fenichel GM, Jankovic J, Mazziotta JC.Fogel BL, Geschwind DH. In: Daroff RB, Fenichel GM, Jankovic J, Mazziotta JC. Bradley's Neurology in Clinical Practice. 6th ed. Philadelphia, PA: Elsevier Saunders; 2012:chap 40. X-Linked Inheritance
- 3. • Males affected almost exclusively • A single recessive gene on that X chromosome will cause the disease. • The gene alteration can be transmitted from female carriers to sons • Affected males cannot transmit the condition to their sons. Fig: X-linked recessive inheritance condition Reference: Dobyns, William B.; Filauro, Allison; Tomson, Brett N.; Chan, April S.; Ho, Allen W.; Ting, Nicholas T.; Oosterwijk, Jan C.; Ober, Carole (2004). "Inheritance of most X-linked recessive traits” . American Journal of Medical Genetics 129A (2): 136. Features of X-Linked Recessive Inheritance
- 4. Fig: X-linked recessive, carrier mother Fig: X-linked recessive, affected father Reference: Wattendorf DJ, Hadley DW Am Fam Physician, Family history: the three- generation pedigree. 2005 Aug 1; 72(3):441-8.[PubMed] Reference: Wattendorf DJ, Hadley DW Am Fam Physician, Family history: the three- generation pedigree. 2005 Aug 1; 72(3):441-8.[PubMed] X-Linked Recessive – In Case of Carrier Mother And Affected Father
- 5. • Most types are caused by a gene located on the X chromosome • Red green colorblindness is the most common type Fig: Ishihara Test Reference: Troscianko T, Benton CP, Lovell PG, Tolhurst DJ, Pizlo ZPhilos Trans R Soc Lond B Biol Sci. on visual perception. 2009 Feb 27; 364(1516):449-61.[PubMed] Example 1 - Colorblindness
- 6. • Much rare than colorblindness -1 in 10,000 males -1 in 100,000,000 females • Hemophilia A is a disorder where the blood cannot clot properly due to a deficiency of a clotting factor called Factor VIII. This results in abnormally heavy bleeding that will not stop, even from a small cut. 2 Reference: 2. Sankiewicz P, Lupsik JR. Gene, genomic, and chromosomal disorders. In: Goldman L, Ausiello D, eds.Sankiewicz P, Lupsik JR. Gene, genomic, and chromosomal disorders. In: Goldman L, Ausiello D, eds. Goldman's Cecil Medicine. 24th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 40. Example 2 - Hemophilia
- 7. THANK YOU