21. NOAH — What Is Albinism? bleeding. genetics of albinism. For nearly all types of albinism bothparents must carry an albinism gene to have a child with albinism. http://www.albinism.org/publications/what_is_albinism.html

What is Albinism? Download the pdf version. Requires Adobe Acrobat Reader The word "albinism" refers to a group of inherited conditions. People with albinism have little or no pigment in their eyes, skin, or hair. They have inherited genes that do not make the usual amounts of a pigment called melanin. One person in 17,000 in the U.S.A. has some type of albinism. Albinism affects people from all races. Most children with albinism are born to parents who have normal hair and eye color for their ethnic backgrounds. Often people do not recognize that they have albinism. A common myth is that by definition people with albinism have red eyes. In fact there are different types of albinism, and the amount of pigment in the eyes varies. Although some individuals with albinism have reddish or violet eyes, most have blue eyes. Some have hazel or brown eyes. Vision Problems People with albinism always have problems with vision, and many have low vision. Many are "legally blind," but most use their vision for reading, and do not use braille. Some have vision good enough to drive a car. Vision problems in albinism result from abnormal development of the retina and abnormal patterns of nerve connections between the eye and the brain. It is the presence of these eye problems that defines the diagnosis of albinism. Therefore the main test for albinism is simply an eye exam.

22. Re: Question About Genetics, Regarding Albinism Re question about genetics, regarding albinism. In Reply to question about genetics,regarding albinism posted by Eric on March 26, 1999 at 035231 PM EST http://www.albinism.org/webboard/general/messages/2797.html

Re: question about genetics, regarding albinism Follow Ups Post Followup NOAH's General WebBoard FAQ Posted by Diane Johnson on March 27, 1999 at 11:07:13 AM EST: In Reply to: question about genetics, regarding albinism posted by Eric on March 26, 1999 at 03:52:31 PM EST: I believe it is yes to both. A recessive gene is a recessive gene. That's why so many of us are shocked when we have a child with albinism. We never knew we were carriers. X-linked recessive, for ocular albinism, has a different pattern that autosomal (typical recessive). X-linked is demonstrates the characteristic in males only. The mothers have a 50/50 chance of giving it to their sons. The father does NOT have to have a recessive gene for it to occur. FYI, Diane Follow Ups: Re: question about genetics, regarding albinism Blaine 12:44:57 PM 08/29/99 Re: question about genetics, regarding albinism Eric 07:24:25 PM 03/28/99 These webboards are no longer accepting new posts. For interactive discussions related to albinism please visit NOAH's Albinism On-lineCommunity at http://www.albinism.org/aoc.html

23. Genetics Of Coat Color In Cattle 1999. In Situ Hybridization Mapping of TYR and CCND1 to Cattle Chromosome 29.Animal genetics 30241242. This is also called oculocutaneous albinism. http://sask.usask.ca/~schmutz/colors.html

Genetics of Coat Color in Cattle a brief review of what is currently known about the genes controlling cattle coat colors and patterns Colors Red versus Black White Yellow or Mouse Dun ... Patterns Roan Whiteface Spotting Color Sided Hereford Pattern Belted Brindle Conditions Associated with Coat Color Coat Color Loci Table and General References DNA Testing for Coat Color Popular Articles ... Links to other Coat Color Sites This webpage was last updated on Feb. 26, 2003 by Sheila Schmutz schmutz@sask.usask.ca Coat color was very variable in early domesticated stocks. In many breeds color became one of the traits under intense selection and ultimately color became part of the identity of many breeds. However in some older breeds, such as Highland and Longhorn, color has remained varied. The painting above hangs in the Department of Animal and Poultry Science in the Agriculture Building at the University of Saskatchewan in Saskatoon. We are proud to display this important documentation of our cattle heritage. It is entitled "Higland Cattle - By the Sea" and was painted by William Smellie Watson of Scotland in 1872, before the Highland cattle registry began. Coat color has fascinated animal breeders and geneticists for many, many years. Classic breeding experiments told us much about the inheritance of coat colors and patterns in the early to mid 1900's. Only in the last 5 years, have the underlying genes been discovered. Many are yet unknown. Several genes interact with each other to alter the shades of the basic colors. Other genes cause deviations from a solid colored body: roan, whiteface, spotting, color sided, to name a few.

24. Nature Publishing Group 1 pp 108 112 Ocular albinism evidence for a defect in an intracellular signal 2 Andrea Ballabio 1, 4 1. Telethon Institute of genetics and Medicine, 20132 http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v23/n1/full/ng0999_1

25. X-linked Ocular Albinism: Prevalence And Mutations A National Study Xlinked ocular albinism prevalence and mutations - a national study. 2 Departmentof Clinical genetics, The Juliane Marie Centre, Rigshospitalet, University http://www.nature.com/cgi-taf/DynaPage.taf?file=/ejhg/journal/v6/n6/abs/5200226a

26. Albinism And Melanosomal Abnormalities MIME albinismgenetics; Analysis-of-Variance; Cell-Differentiation; Genes,-Lethal;Genotype-; Hair-Color-genetics; Melanocytes-ultrastructure; Mice-; Mice http://www.geocities.com/~amazondoc/albinism/melanosome.html

Facts about Albino Dobermans Albinism and Melanosomal Abnormalities Cole, D. E. (1985). Occulocutaneous hypopigmentation of Angus cattle. Dissertation Abstracts International, B, 45(10), 3128. 23 Angus cattle with oculocutaneous hypopigmentation had a chocolate-brown haircoat and slate-grey muzzle and teats. Irises were tan-coloured with a pale blue central area around the pupils, which severely constricted during daylight. The cattle were photophobic and reluctant to graze in sunlight, transmission electron microscopy of iris and ciliary body revealed a disorganized melanosomal matrix, immature melanosomes and flocculant melanin, thought to be the cause of the hypopigmentation. It was concluded from breeding trials that this condition was inherited as a simple autosomal recessive trait. Back to the main page

27. Genetics Data School Code AU001 albinism Total 49 Yes 0 No 49 Dimples Total 49 Yes 5 No44 Attached Ear Lobes Total 49 Yes 27 No 22 Foot Arch Total 49 Yes 26 http://kalama.doe.hawaii.edu/~conniem/genetics/genedata.html

Date: Mon, 22 Apr 1996 11:47:35 -1000 From: jbaron@interport.net (Joshua D. Baron) Subject: Raw Data Status: RO Raw Data (NOTE: The project may have ended in April, 1996, but the information can still be used to compare. You can also join the continuing project by accessing the webpage .) Here is the raw data: School Code: AU001 Albinism: Total: 49 Yes: No: 49 Dimples: Total 49 Yes: 5 No: 44 Attached Ear Lobes: Total: 49 Yes: 27 No: 22 Foot Arch: Total: 49 Yes: 26 No: 23 Straight Hairline: Total: 49 Yes: 24 No: 25 Straight Hair: Total: 49 Yes: 44 No: 5 Space Between Teeth: Total: 49 Yes: 26 No: 23 Tongue Rolling: Total: 49 Yes: 29 No: 20 School Code: CA001 Albinism: Total: 265 Yes: No: 265 Dimples: Total 265 Yes: 95 No: 170 Attached Ear Lobes: Total: 265 Yes: 100 No: 165 Foot Arch: Total: 265 Yes: 222 No: 43 Straight Hairline: Total: 265 Yes: 108 No: 157 Straight Hair: Total: 265 Yes: 154 No: 111 Space Between Teeth: Total: 265 Yes: 92 No: 173 Tongue Rolling: Total: 265 Yes: 192 No: 73 School Code: EC001 Albinism: Total: 110 Yes: No: 110 Dimples: Total 110 Yes: 31 No: 79 Attached Ear Lobes: Total: 110 Yes: 24 No: 86 Foot Arch: Total: 110 Yes: 87 No: 23 Straight Hairline: Total: 110 Yes: 58 No: 52 Straight Hair: Total: 110 Yes: 34 No: 76 Space Between Teeth: Total: 110 Yes: 19 No: 91 Tongue Rolling: Total: 110 Yes: 76 No: 34 School Code: EC002 Albinism: Total: 361 Yes: No: 361 Dimples: Total 361 Yes: 115 No: 246

28. Albinism; What Is Albinism(Knowlton Homepage) genetics of albinism (top) For nearly all types of albinism both parentsmust carry an albinism gene to have a child with albinism. http://www.knowlton.clara.net/family/Albinism/what_is_albinism.htm

c (more information coming....) The word "albinism" refers to a group of inherited conditions. People with albinism have little or no pigment in their eyes, skin, or hair. They have inherited genes that do not make the usual amounts of a pigment called melanin. One person in 17,000 has some type of albinism. Albinism affects people from all races. Most children with albinism are born to parents who have normal hair and eye colour for their ethnic backgrounds. Often people do not recognize that they have albinism. A common myth is that by definition people with albinism have red eyes. In fact there are different types of albinism, and the amount of pigment in the eyes varies. Although some individuals with albinism have reddish or violet eyes, most have blue eyes. Some have hazel or brown eyes. With me ( Bianca) , I am classed as a full Albino, with pink eyes and nystagmus, pale skin & white hair and visually classed as borderline Braille user but, Hey..... I can still spot a good looking guy at 10 paces... how I do that will be explained in the page "What do I see as an Albino". Vision Problems top ) People with albinism always have problems with vision, and many have low vision. Many are "legally blind," but most use their vision for reading, and do not use Braille. Some have vision good enough to drive a car.

29. Institute Of Human Genetics - University Of Minnesota American Journal of Human genetics 6314191424, 1998. Oetting WS, King RA.Molecular basis of albinism mutations and polymorphisms of pigment genes http://www.ihg.med.umn.edu/people/king.html

Faculty Richard King, MD, PhD Richard King, M.D., Ph.D. Professor Phone: (612) 624-6657 email: king@mail.ahc.umn.edu Research Interests There are two major areas of emphasis in Dr. King's laboratory: molecular basis of disease using the melanin pathway and human oculocutaneous albinism as a model system, and the identification of genes responsible for complex common diseases using automated linkage analysis and gene mapping techniques. Seven genes responsible for oculocutaneous albinism have been identified. Mutations of the P gene on chromosome 15q are responsible for OCA2 or tyrosinase positive OCA, the most common type of OCA in humans, and a large number of mutations of this gene have been identified. In Dr. King's lab, the phenotypic range of OCA2 is being characterized through the analysis of unusual families with OCA2, and the potential function of the P protein are being explored, in collaborations with Murray Brilliant, Ph.D., University of Arizona, and Vincent Hearing, Ph.D., NCI, NIH. The most significant clinical problem in human albinism is the loss of visual acuity associated with deficient melanin in the developing eye and optic system. To address this problem, studies that use microarray technology are being designed with mice that contain an inducible tyrosinase transgene, with the goal of characterizing the effects of retinal pigment epithelium melanization on gene expression and ganglion cell proliferation.

30. Medical Genetics for albinism and Hypopigmentation Alzheimers Alzheimers.com Alzheimer's Disease Doctor's Guide to the Internet GPI Alzheimer's Disease and genetics http://alamo.nmsu.edu/~vlombran/MedGen.htm

HGI Human Genetics on the Internet MEDICAL (CLINICAL) GENETICS Databases / Indexes / Link Collections Alphabetical List of Specific Diseases/Disorders - Karolinska Institutet Blazing a Genetic Trail Connective Tissue Disorders Cystic Fibrosis Index of On-Line Resources ... The Porph Forum Lectures, Presentations, Brochures Clinical Genetics: A Self Study for Health Care Providers MDA Disease Brochures Endocrinology Related Links The Turner Center for Information, Counseling, and Research on Chromosome Anomalies Support Groups Alzheimer's Association Alzheimers.com Genetic Conditions/Rare Conditions: Support Groups and Information page Intersex Society of North America ... NOAH - The National Organization for Albinism and Hypopigmentation Links to Specific Genetic Disorders Adrenal Hyperplasia Congenital Adrenal Hyperplasia Alagille Syndrome Diseases of the Liver Medical Research Articles on Alagille Syndrome The Allagille Syndrome Alliance Albinism International Albinism Center NOAH - The National Organization for Albinism and Hypopigmentation Alzheimers Alzheimers.com

31. Entrez-PubMed assessment for atrisk females. MeSH Terms Adult; albinism, Ocular/genetics*;albinism, Ocular/diagnosis; Child; Computer Systems*; http://www.biomedcentral.com/pubmed/12515581

PubMed Nucleotide Protein Genome ... Books Search PubMed Protein Nucleotide Structure Genome PMC OMIM Taxonomy Books PopSet ProbeSet 3D Domains UniSTS Domains SNP Journals UniGene NCBI Web Site for Limits Preview/Index History Clipboard ... Text Version Entrez PubMed Overview FAQ Tutorial New/Noteworthy ... E-Utilities PubMed Services Journals Database MeSH Browser Single Citation Matcher Batch Citation Matcher ... Cubby Related Resources Order Documents NLM Gateway TOXNET Consumer Health ... PubMed Central Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Domain Links 3D Domain Links Genome Links ProbeSet Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links Show: Sort Author Journal Pub Date Text File Clipboard Order BMC Genet 2003 Jan 7;4(1):1 Related Articles, Links Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay. Faugere V, Tuffery-Giraud S, Hamel C, Claustres M. Laboratoire de Genetique Moleculaire, Institut Universitaire de Recherche Clinique IURC et CHU, 641 Avenue du Doyen Gaston Giraud, 34093 Montpellier cedex 5, France. vfaugere@igh.cnrs.fr

32. Biochemical Genetics - 1-gene::1-enzyme Expand outline to show bullets/links Biochemical genetics 1-gene1-enzymeOne Gene - One Enzyme. Basic Biochemistry. albinism. dihydroxyphenylalanine. http://www.dac.neu.edu/biology/c.ellis/gen1415/cOutline.html

Biochemical Genetics - 1-gene::1-enzyme One Gene - One Enzyme Basic Biochemistry Biochemical Phenotypes Inborn Errors of Metabolism ... Restating the Hypothesis

33. Biochemical Genetics - 1-gene::1-enzyme Collapse outline to hide bullets/links Biochemical genetics 1-gene1-enzymeOne Gene - One Enzyme. Basic Biochemistry. albinism. dihydroxyphenylalanine. http://www.dac.neu.edu/biology/c.ellis/gen1415/eOutline.html

Biochemical Genetics - 1-gene::1-enzyme One Gene - One Enzyme Basic Biochemistry Biochemical Phenotypes Inborn Errors of Metabolism ... Restating the Hypothesis

34. NIH Guide: OCULAR ALBINISM AND THE NEUROSCIENCE OF RETINAL GANGLION CELL AXON GU and myopia, melanosome biogenesis in the retinal pigment epithelium (RPE), retinalcell trafficking of tyrosinase, or the genetics of albinism syndromes. http://grants.nih.gov/grants/guide/rfa-files/RFA-EY-02-001.html

OCULAR ALBINISM AND THE NEUROSCIENCE OF RETINAL GANGLION CELL AXON GUIDANCE RELEASE DATE: January 14, 2002 RFA: RFA-EY-02-001 PARTICIPATING INSTITUTES AND CENTERS (ICs): National Eye Institute ( http://www.nei.nih.gov http://grants.nih.gov/grants/funding/modular/modular.htm pad@nei.nih.gov o Direct your questions about peer review issues to: Samuel C. Rawlings, Ph.D. Chief, Scientific Review Branch National Eye Institute Executive Plaza South, Suite 350 6120 Executive Blvd, MSC 7164 Bethesda, MD 20892-7164 Telephone: (301) 496-5561 FAX: (301) 402-0528 Email: rawlings@nei.nih.gov o Direct your questions about financial or grants management matters to: William W. Darby Grants Management Officer National Eye Institute Executive Plaza South, Suite 350 6120 Executive Blvd, MSC 7164 Bethesda, MD 20892-7164 Telephone: (301) 496-5884 FAX: (301) 496-9997 Email: wwd@nei.nih.gov SUBMITTING AN APPLICATION Applications must be prepared using the PHS 398 research grant application instructions and forms (rev. 5/2001). The PHS 398 is available at http://grants.nih.gov/grants/funding/phs398/phs398.html

35. NIH Guide: OCULAR ALBINISM (OA1) AND RETINAL GANGLION CELL DEVELOPMENT o Study of the genetics of albinism as it relates to the visual system andmisrouting of retinal ganglion cell axons to their central targets. http://grants.nih.gov/grants/guide/rfa-files/RFA-EY-03-003.html

OCULAR ALBINISM (OA1) AND RETINAL GANGLION CELL DEVELOPMENT RELEASE DATE: January 14, 2003 RFA: EY-03-003 National Eye Institute (NEI) ( http://www.nei.nih.gov http://grants.nih.gov/grants/funding/modular/modular.htm pad@nei.nih.gov o Direct your questions about peer review issues to: Samuel C. Rawlings, Ph.D. Chief, Scientific Review Branch National Eye Institute Executive Plaza South, Suite 350 6120 Executive Blvd, MSC 7164 Bethesda MD 20892-7164 Telephone: (301) 496-5561 FAX: (301) 402-0528 Email: rawlings@nei.nih.gov o Direct your questions about financial or grants management matters to: William W. Darby Grants Management Officer National Eye Institute Executive Plaza South, Suite 350 6120 Executive Blvd, MSC 7164 Bethesda MD 20892-7164 Telephone: (301) 496-5884 FAX: (301) 496-9997 Email: wwd@nei.nih.gov SUBMITTING AN APPLICATION Applications must be prepared using the PHS 398 research grant application instructions and forms (rev. 5/2001). The PHS 398 is available at http://grants.nih.gov/grants/funding/phs398/phs398.html

36. B PARENTS EXCHANGE Genetics /b Ocular albinism Assisting Students with albinism Alliance of Genetic Support GeneticsTreacher Collins Syndrome Trisomy Organization Turner's Syndrome Wilson's http://members.tripod.com/~pex/genetics.html

Get Five DVDs for $.49 each. Join now. Tell me when this page is updated Intro to Genetic Testing The Achromatopsia Network Get Five DVDs for $.49 each. Join now. Tell me when this page is updated Intro to Genetic Testing The Achromatopsia Network ... Return to Disability List

37. Untitled Document One has recently (February 2001) submitted a thesis for a Masters in optometry, anotheris working on population genetics of albinism among the Venda people of http://www.coventry.ac.uk/staff/se/biology/pl.htm

BIOLOGICAL SCIENCES : STAFF RESEARCH PROFILES Geography Staff A-Z Index Biosciences Staff A-Z Index ... Staff A-Z Index Pat Lund Senior Lecturer in Biosciences Tel: 024 7688 8281 Email: p.lund@coventry.ac.uk Research Activities Pat is a Senior Lecturer in the Biosciences Subject Group, School of Science and the Environment, Coventry University. Pat, a geneticist, has worked on albinism in southern Africa for over 8 years, on a research project initiated while she was a lecturer at the University of Zimbabwe in the early 1990s. She is currently coordinating an international research effort on albinism in sub-Saharan Africa involving the International Albinism Center, Minnesota, USA, Arizona University, USA, University of the North, South Africa and University of Venda, South Africa. This multidisciplinary study covers: m olecular genetics to determine the frequency of a common deletion mutation in ethnic groups in South Africa population genetic studies an optometric study to document the visual performance of children with albinism a sun protection study, with a longitudinal study to document the ultraviolet induced skin lesions and cancers in children with albinism planned

38. Web Links, Genetics: From Genes To Genomes toc.htm world. The National Organization for albinism and Hypopigmentationhttp//www.albinism.org/. Student. Sickle Cell Information http://www.mhhe.com/biosci/cellmicro/hartwell/hartwellchap2.mhtml

Chapter 2 Instructor Sickle Cell Information Center, Emory University http://www.emory.edu/PEDS/SICKLE/toc.htm#world The National Organization for Albinism and Hypopigmentation: http://www.albinism.org/ Student Sickle Cell Information Center, Emory University http://www.emory.edu/PEDS/SICKLE/toc.htm#world The National Organization for Albinism and Hypopigmentation: http://www.albinism.org/ The Mayo Clinic's information page on blood types http://www.mayohealth.org/mayo/9902/htm/bloodtyp.htm Back Any use is subject to the and McGraw-Hill Higher Education is one of the many fine businesses of the The McGraw-Hill Companies

39. Human Genetics 4/e; Student Support Groups Each of the sites below provides general information about the geneticdiseases discussed in this textbook. albinism www.albinism.org. http://www.mhhe.com/biosci/cellmicro/lewis4e/student/support.mhtml

Support Groups and Information Sites for Genetic Diseases Each of the sites below provides general information about the genetic diseases discussed in this textbook. Albinism www.albinism.org Alzheimer's disease www.alz.org Angelman Syndrome chem-faculty.ucsd.edu/harvey/AS_info.html Ataxia Telangiectasia www.atcp.org Breast Cancer www.natlbcc.org Charcot-Marie-Tooth Disease www.charcot-marie-tooth.org Creutzfeldt-Jakob Disease www.cjd.ed.ac.uk Crigler-Najjar www.crigler-najjar.com Cystic Fibrosis www.cff.org Depression www.ndmda.org Diabetes www.diabetes.org Down Syndrome www.ndss.org www.nas.com/downsyn/index.html Dwarfism www.hgfound.org/ Ectodermal Dysplasia www.nfed.org Ehlers-Danlos www.ednf.org Fanconi Anemia www2.cybernex.net/~jj/fa/fabook.html Fragile-X Syndrome www.FRAXA.org Hemochromatosis www.americanhs.org Hemophilia www.hemophilia.org Huntington Disease www.lib.uchicago.edu/~rd13/hd/index.html Hypercholesterolemia healthlinkusa.com/familial_hypercholesterolemia.html Klinefelter Syndrome www.genetic.org/ks Long Qt Syndrome www.sads.org

40. Zl1002 Medelian Genetics 2 BZ1001 Mendelian genetics 2 INHERITANCE OF MENDELIAN TRAITS. As An exampleof a recessive trait The inheritance of albinism. albinism http://www.jcu.edu.au/~zljes/bz1001/lecture7.htm

BZ1001 Mendelian Genetics 2 INHERITANCE OF MENDELIAN TRAITS. As a result of meiosis and fertilisation offspring receive one set of chromosomes from parents: half from the father and half from the mother. If parent is heterozygous, offspring can only inherit one of the two alternative alleles the chances of inheriting each of the alternatives are equal Mendel's 'segregation' law Simplest patterns of inheritance are shown by single autosomal gene (ie by a single gene not located on the sex chromosome). An example of a recessive trait: The inheritance of albinism. Albinism 1 in 38000 whites and about 1 in 22000 blacks. Albinos synthesise little or no melanin, the pigment commonly found in skin, hair, and eyes. There are several forms of albinism, but the commonest results from the lack of a particular enzyme (tyrosinase) which is needed to synthesise melanin. The trait is recessive; that is, heterozygotes are not albinos. The allele for albinism as a normal pigmentation as A. An albino genotype aa Normal has a genotype AA . or Aa All gametes from albino will carry the a allele

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

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