61. Oculocutaneous Albinism At present, four genetic loci responsible for human albinism have been mapped Spritz, RA (1994) Molecular genetics of oculocutaneous albinism, Hum. Mol. http://albinism.med.umn.edu/mmm.htm

The Clinical Spectrum of Albinism in Humans by: William S. Oetting, Ph.D. and Richard A. King, M.D., Ph.D. Department of Medicine, University of Minnesota Murray H. Brilliant, Ph.D. Fox Chase Cancer Center, Philadelphia Glossary Melanosome - the organelle in the melanocyte the contains the melanin pigment. The melanosome has an internal protein matrix upon which the melanin is synthesized and stored. HPS - Hermansky-Pudlak Syndrome. CHS - Chediak-Higashi Syndrome. Freckles - Small lentigines. Also known as ephelides. Lentigines - small pigmented flat spots (macules) in the skin, associated with increased melanin synthesis in melanocytes. Often found in sun exposed areas. Nevus - benign melanocyte tumor of the skin. Also known as a mole. Storage-pool deficient platelets - platelets in which the number of dense bodies is reduced or absent. Ceroid-storage disease - the accumulation of ceroid in tissues throughout the body. Ceroid is an autofluorescent material of unknown orgin that accumulates in the tissues of individuals with HPS as they age. Platelet dense bodies - storage granules in platelets for serotonin, adenine nucleotides, calcium, and other compounds necessary for platelet aggregation and function.

62. Facts About Albinism albinism is genetic. It is inherited. See Understanding genetics. BADSBlack Locks albinism Deafness Syndrome A rare form of albinism which http://albinism.med.umn.edu/facts.htm

Index Questions and Answers: What is Albinism? What is melanin pigment? How does melanin form? What Are the Problems with Albinism? ... Autosomal Recessive Ocular Albinism (AROA) Common Questions About Albinism Can people with albinism have children? Do people with albinism have a normal life span? Do people with albinism have normal intelligence? Where can I get more information about albinism? ... What Causes Albinism? Why are children born with it? Understanding Genetics Understanding Genetics Autosomal Recessive Inheritance X-Linked Inheritance Miscellaneous Other Reading: Definitions of Words About the Authors What is Albinism? The word " albinism " refers to a group of inherited conditions. People with albinism have little or no pigment in the eyes, skin, and hair (or in some cases in the eyes alone). They have inherited from their parents an altered copy of a genes that does not work correctly. The altered gene does not allow the body to make the usual amounts of a pigment called melanin Approximately one in 17,000 people have one of the types of albinism. About 18,000 people in the United States are affected. Albinism affects people from all races. The parents of most children with albinism have normal hair and eye color for their ethnic background, and do not have a family history of albinism. What is melanin pigment?

63. CRL-Rodent Genetics And Genetic Quality Control For Inbred And F1 Hybrid Strains In mice, the mutant allele for albinism is a recessive gene designated c. Genetic quality control therefore seeks to prevent and detect genetic http://www.criver.com/techdocs/rodent1.html

ASK CHARLES RIVER FREQUENTLY ASKED QUESTIONS ON-LINE LITERATURE WHAT'S NEW ... Index FALL 1991 Rodent Genetics and Genetic Quality Control for Inbred and F Hybrid Strains, Part I The best animals for research are those free of adventitious infections shown to cause disease or alter research findings. For certain types of research, animals with stable, identifiable, genetically determined characteristics are also essential. This document reviews the development of such animals by selection and inbreeding, defines basic genetic terms and concepts, and describes how breeders prevent and detect genetic contamination. It ends with an introduction to genetic quality control, including a brief discussion of colony management. Genetic monitoring, the main component of quality control, is detailed in the 1992 document, Part II of this series. The subject of transgenics is covered in other issues. Selection Identifiable changes from the norm arise spontaneously. Visible changes (e.g., allopecia, a change in coat color, or obesity) may or may not be associated with invisible changes. For example, two years after Flanagan discovered the nude mouse in 1966 ( Genet. Res.

64. Population Genetics Example albinism in the us is a recessive genetic characteristic. About one in20000 inviduals are albinos. Therefore, q2 = 1/20000 and thus q is http://www.bio.miami.edu/tom/bil160/bil160goods/04_popgen.html

Population Genetics With simplifying assumptions, the Hardy-Weinberg equilibrium allows us to calculate gene frequencies from phenotype frequencies. Let's assume that a population of individuals of the same species mate together. We will make the following simplifying assumptions: 1) There are no mutations. 2) There is no migration into or out from the population. 3) There are a very large number of individuals. 4) They mate randomly. 5) There is no natural selection Suppose that the probability of a dominant allele "A" is p and the probability of the recessive allele "a" is q. (Remember, probabilities range from to 1.) Of course, we know that p+q = 1 because a particular sperm or egg must either have "A" 0r "a" with 100% certainty unless this gene is located on a sex chromosome. Since the sperm and eggs combine randomly, the chance of a zygote having genotype "AA" is p , of having genotype "Aa" is 2pq, and of having "aa" is q . Just as a given haploid sperm or egg must have either "A" or "a" gives p+q = 1, a given zygote (and the resulting adult) having to have genotype "AA", "Aa", or "aa" gives p + 2pq + q = 1. (You may remember this from algebra as the binomial theorem.)

65. Università Vita-Salute San Raffaele Home Page MV (2000) Defective intracellular transport and processing of OA1 is a majorcause of Ocular albinism type 1. Human Molecular genetics 9, 30113018. http://www.unihsr.it/print.asp?l=&id=681

66. Entrez PubMed albinism in laboratory mammals is equivalent to human tyrosinasenegativeoculocutaneous albinism, a http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=2

67. Isssues In Human Genetics 02 2 Transmission genetics and the single gene Ch 3, 4; in class project on traits; For instance, a student interested in albinism in a past class put http://www.ncf.edu/gilchrist/isssues_in_human_genetics_02.htm

Gilchrist Office Hours: W 8:30-9:30, Th 10:30-11:30 (sign up sheet outside office at HNS 109); online chat time to be determined first week of class: other hours by appointment please ( gilchrist@ncf.edu ; 359-4275; webpage at www.ncf.edu/gilchrist) Required Text: Human Genetics by Ricki Lewis This course provides an exploration of the fundamentals of human genetics. We will get a background in some basics of how genes work, then we will examine genes in action. There will be a few film showings in the evenings, but these will be kept to a minimum . Films will be available for students to view on their own as well. Supplemental class readings will be available on reserve at the library or online. These should be used to enhance and broaden understanding of topics. Students will be expected to participate fully in class projects and in discussions. Therefore, it is necessary that materials be read before coming to class and that you attend class regularly. Group work is essential so we will spend some time on developing small group skills. Evaluations will be based on 2 in class quizzes (on Thursdays unless noted otherwise), 2 homeworks, a class notebook (includes digital portfolio and in class projects), a current event collage and a final project. In class projects may take some time outside of class to complete.

68. Chaki, Mol Vis 2005; 11:531-534. Molecular genetics of oculocutaneous albinism. Semin Dermatol 1993; 1216772.12. Gershoni-Baruch R, Rosenmann A, Droetto S, Holmes S, Tripathi RK, http://www.molvis.org/molvis/v11/a62/

Molecular Vision Download Reprint Higher prevalence of OCA1 in an ethnic group of eastern India is due to a founder mutation in the tyrosinase gene Moumita Chaki, Arijit Mukhopadhyay, Shamba Chatterjee, Madhusudan Das, Swapan Samanta, Kunal Ray Department of Zoology, University of Calcutta, Kolkata, India; B. C. Roy Children Hospital, Kolkata, India Correspondence to: Dr. Kunal Ray, Human Genetics and Genomics Division, Indian Institute of Chemical Biology, 4 Raja S. C. Mullick Road, Jadavpur, Kolkata-700 032, India; Phone: (91) 33-2473-0350; FAX: (91) 33-2473-5197 and (91) 33-2472-3967; email: kunalray@vsnl.com Dr. Mukhopadhyay is now at the Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands Abstract Purpose: Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by deficient synthesis of melanin pigment and associated with common developmental abnormalities of the eye. It is one of the major causes of childhood blindness in India. The disease is common among an ethnic group (Tili) of Eastern India, which represents about 12.56% of the Bankura district population (approximately 0.4 million) of West Bengal. The purpose of the study was to investigate the molecular lesions causing OCA within this ethnic group for the unequivocal diagnosis of the carriers and attempt to decipher the cause for the high prevalence of OCA. Methods: Fourteen OCA-affected Tili families consisting a total of 161 individuals, including 26 patients, were recruited for the study. A lack of tyrosinase (TYR) activity among all the patients was ascertained by the tyrosinase hair bulb assay. Mutation screening in the tyrosinase gene (

69. OCA2 - Genetics Home Reference genetics Home Reference your guide to understanding genetic conditions The official name of this gene is “oculocutaneous albinism II (pinkeye dilution http://ghr.nlm.nih.gov/gene=oca2

Home What's New Browse Handbook ... Related Condition(s) Quick links to this topic Gene Reviews Clinical summary Gene Tests DNA test labs PubMed Recent literature OMIM Genetic disorder catalog Research Resources Tools for researchers References On this page: What is the official name of the OCA2 gene? What is the ... help with understanding OCA2? What is the official name of the OCA2 gene? OCA2 is the gene's official symbol. The OCA2 gene is also known by other names, listed below. What is the normal function of the OCA2 gene? The OCA2 gene (formerly called the P gene) makes a protein called the P protein. This protein is located in cellular structures called melanosomes, which produce a pigment called melanin. Melanin is the substance that gives skin, hair, and eyes their color. Melanin is also found in the retina (the light-sensitive cell layer at the back of the eye), where it plays a role in normal vision. Although the exact function of the P protein is unknown, it is likely involved in the production of melanin. Researchers believe that the protein may transport molecules into and out of melanosomes or help regulate the pH (relative acidity) of these cellular structures. What conditions are related to the OCA2 gene?

70. Internet Public Library: Genetics The website explores the history and mythology of albinism and ElectronicScholarly Publishing Classic Papers in genetics http//www.esp.org/ http://www.ipl.org/div/subject/browse/sci36.20.00/

dqmcodebase = "/javascript/" Subject Collections Business Computers Education ... Genetics This collection All of the IPL Advanced The study of heredity and variation in organisms. Resources in this category: You can also view Magazines Associations on the Net under this heading. Albinism in Popular Culture http://www.lunaeterna.net/popcult/ The website explores the history and mythology of albinism and highlights how it is perceived in popular culture. Includes references to albinism in film, literature, and public figures. Blazing a Genetic Trail http://www.hhmi.org/genetictrail/ This website from the Howard Hughes Medical Institute traces the process of uncovering the genes that cause human disease. Along the way, it provides some basic information about population genetics, the mechanisms of inheritance, and the Human Genome Project. The site is also available in Spanish. DNA From the Beginning http://www.dnaftb.org/dnaftb/ This interactive site provides 40 simple lessons explaining the basics of classical genetics, the molecules of genetics, and genetic organization and control. "The science behind each concept is explained by: animation, image gallery, video interviews, problems, biographies, and links." (Flash and Quicktime installation is required for interactive features.) DNA Interactive http://www.dnai.org/index.htm

71. MedlinePlus Medical Encyclopedia: Albinism This is due to a genetic defect in tyrosinase the enzyme responsible for accurate way to determine albinism and the specific type is genetic testing. http://www.nlm.nih.gov/medlineplus/ency/article/001479.htm

@import url(/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Albinism Contents of this page: Illustrations Alternative names Definition Causes, incidence, and risk factors ... Prevention Illustrations Nevus, halo Alternative names Return to top Hypopigmentation; Oculocutaneous albinism; Ocular albinism Definition Return to top Albinism refers to a group of related conditions. These conditions are the result of altered genes that cause a defect of melanin production. This defect results in the partial or full absence of pigment from the skin, hair, and eyes. Causes, incidence, and risk factors Return to top Albinism results when the body is unable to produce or distribute pigment, called melanin, because of one of several possible genetic defects. In Type 1 albinism defects in the metabolism of tyrosine lead to failure in converting this amino acid to melanin. This is due to a genetic defect in tyrosinase the enzyme responsible for metabolizing tyrosine. Type 2 albinism is due to a defect in the "P" gene. Those with this type have slight pigmentation at birth.

72. Axolotls - Genetics - Color Phases Mutants And Phenotypes - Axolotl Axolotl genetics Ambystoma mexicanum - Axolotls. The albino axolotl wasfirst developed in 1964, by back-crossing the F2 children of a hybrid http://www.geocities.com/Yosemite/4301/axolotlgenetics.htm

AXOLOTLS GENETICS index [Calixto] [Description] [Axolotl FAQ] [My Axolotls] ... [Genetics] contact -or- Sign The Guestbook version visits travel Da Homepage legal Chris Eng All Rights Reserved Mutants As of 1990, there have been 44 mutant genes identified, affecting stages of development from oogenesis to pigmentation. Colorful Axolotls For the keeper who is keeping an axolotl as a pet, as opposed to laboratory research, the different colors of the axolotl or its phenotype is usually of core interest. Phenotypes Albino - Deficient pigmentation in the skin. Animal lacks melanosphores Melanic - Extra or excess black pigmentation in the skin Xanthic - Yellow pigmentation caused by hydrolysis of guanine. Chromatosphores Iridosphores - Produces shiny iridescence Melanosphores - Produces the dark pigment Xanthophores - Produces the yellow pigment. Example - Expressing the Albino Phenotype The nomenclature used by the Axolotl Colony is as follows: a - The albino gene was present in previous generations a+ - The albino gene is not present in the animal. +/a - Recessive for the albino gene. The animal has the gene but does not display it.

73. Re: Can 2 Parents Without Albinism, Have A Child With Albinism? one gene for albinism, he or she will have enough genetic information to The albinism gene is recessive it does not result in albinism unless a http://www.madsci.org/posts/archives/dec2001/1008828215.Ge.r.html

MadSci Network : Genetics Re: Can 2 parents without Albinism, have a child with Albinism? Date: Wed Dec 19 12:44:09 2001 Posted By: Man Mohan, Grad student, Oncology, Institute of Cytology and Preventive Oncology Area of science: Genetics ID: 1008536794.Ge Message: Dear Rachel I am sorry for replying late. For nearly all types of albinism both parents must carry an albinism gene to have a child with albinism. Because the body has two sets of genes,a person may have normal pigmentation but carry the albinism gene. If a person has one gene for normal pigmentation and one gene for albinism, he or she will have enough genetic information to make normal pigment. The albinism gene is "recessive" it does not result in albinism unless a person has two copies of the gene for albinism and no copy of the gene that makes normal pigment. When both parents carry the gene, and neither parent has albinism, there is a one in four chance at each pregnancy that the baby will be born with albinism. This type of inheritance is called autosomal recessive inheritance. You could also check out some of these interesting links http://www.cbc.umn.edu/iac/

74. AllRefer.com - Albino (Genetics And Genetic Engineering) - Encyclopedia AllRefer.com reference and encyclopedia resource provides complete informationon albino, genetics And Genetic Engineering. Includes related research links. http://reference.allrefer.com/encyclopedia/A/albino.html

AllRefer Channels :: Health Yellow Pages Reference Weather September 18, 2005 Medicine People Places History ... Maps Web AllRefer.com You are here : AllRefer.com Reference Encyclopedia Genetics And Genetic Engineering ... albino By Alphabet : Encyclopedia A-Z A albino, Genetics And Genetic Engineering Related Category: Genetics And Genetic Engineering albino [alb I O Pronunciation Key Mendel genetics ) in humans and other animals. Through experimental breeding, races of albinos have been established among some domestic animals, e.g., mice, rabbits, pigeons, and chickens. Albino animals are sometimes held sacred, for example, white elephants in Thailand and white cattle in India. The presence of an excess of black pigment is called melanism. Topics that might be of interest to you: genetics Gregor Johann Mendel Related Categories: Science and Technology Biology and Genetics More articles from AllRefer Reference on albino SITE MAPS Encyclopedia US Gazetteer: US States A-C US States D-H US States I-L US States M ... Countries A-Z Content on this web site is provided for informational purposes only. We accept no responsibility for any loss, injury or inconvenience sustained by any person resulting from information published on this site. We encourage you to verify any critical information with the relevant authorities. About Us Contact Us Privacy Links Directory ... Link to AllRefer.com

75. The Genetics Of Human Eye Color The genetic basis for eye color is actually far more complex. Since albinismis caused by a recessive allele, two normal parents may produce an albino. http://www.seps.org/cvoracle/faq/eyecolor.html

The Genetics of Human Eye Color Can a baby's eye color be predicted using the eye color of the parents, grandparents and siblings? Eye color is a physical trait that is genetically determined. A favorite pastime for many expectant parents is documenting the eye color of grandparents and extended family members to attempt to predict the eye color of their baby. Any discussion of the inheritance of eye color, requires a review of genetics. In basic terms, eye color is determined by the amount of a pigment called melanin that is in the iris of the eye. Brown eyes have lots of pigment, blue eyes very little. The amount of pigment is determined by a number of genes controlling pigment production. Generally speaking, brown is dominant, meaning that if one parent has brown eyes and the other has blue eyes, the baby will most likely have brown eyes. But the situation is really much more complicated than that. For a more complete description, read on. What is a gene and what does it have to do with eye color? If genes occur in pairs are both genes alike?

76. Genetic Crosses Genetic and Morphological Terms. (developed by Ron Michelotti). albinism a simplerecessive mutation where the animal completely lacks melanin http://www.classreptilia.com/basic_genetics.htm

Basic Genetics Genetic and Morphological Terms (developed by Ron Michelotti) Albinism - a simple recessive mutation where the animal completely lacks melanin Allele - (see gene) Anerytherism - a simple recessive mutation where the animal lacks erythrin, or red pigment Axanthism - a simple recessive mutation where the animal completely lacks yellow and red pigment Codominant mutation - this mutation is expressed in varying degrees whenever the mutant allele appears in the genotype; it can be intensified if the offspring receives the mutant alleles from both parents (homozygous condition) Dihybrid cross - shows the possible genotype of offspring as the result of the pairing of two different genes Dominant character - the individual need only receive one dominant allele from one parent to be expressed (unlike a simple recessive trait); uppercase letters are often used in writing the genotype Double Het(erozygous) - the animal is heterozygous for two different traits F1 (filial 1) - 1st generation from parental generation (usually an original pair from a particular bloodline or wild type) F2 (filial 2) - 2nd generation from parental generation; in herpetoculture, these offspring have been selectively bred and are often more desirable in color and/or pattern variations

77. Color Morphs And Genetics Albino Chondros. Chondro genetics. Let me state up front that I am not a geneticist,and my understanding of basic genetics is based on what I have learned http://www.finegtps.com/Morphs.html

Green Tree Python Color and Pattern Morphs Perhaps nothing about chondros is as fascinating or mysterious as all the various color varieties, and the way the neonates develop these adult colors. The general information presented here will answer some basic questions that are frequently asked and some of the facts (and fallacies) regarding this subject will be addressed. This page deals with captive bred color morphs. For information about the Geographic races and localities of GTPs, please see Geographic Races Some definitions may be in order so that no confusion will result from the terms as used on this page. I define a Morph as a definable color and/ or pattern trait that makes up a permanent adult appearance. Phase denotes a color or trait that appears for a while but may or may not be permanent , such as a temporary juvenile color. Designer indicates a morph that is not normally naturally occurring. High end refers to any chondro that is an outstanding example of its kind, regardless of whether it is a naturally occurring or designer morph. The group of morphs discussed below is not an exhaustive list, but it covers the common ones.

78. Albinism Medical Information albinism Information from Drugs.com. The most accurate way to determinealbinism and the specific type is genetic testing. http://www.drugs.com/enc/albinism.html

Home New Drugs Latest News Drug Interactions ... Forum Drugs.com - prescription drug and medicine information available on over 24,000 approved- medications and pharmaceuticals, including side effects and drug interactions. Log-in Register Advertisement Buy a Link Now Special Offers From our sponsors Categories Diabetes Gastro Center Weight Loss AIDS/HIV ... Sexual Health Advertisement Advanced Search Or click the first letter of a drug name: A B C D ... Z Albinism Injury Disease Nutrition Poison ... Nevus, halo Albinism Definition Albinism refers to a group of related conditions. These conditions are the result of altered genes that cause a defect of melanin production. This defect results in the partial or full absence of pigment from the skin, hair, and eyes. Alternative Names Hypopigmentation; Oculocutaneous albinism; Ocular albinism Causes Albinism results when the body is unable to produce or distribute pigment, called melanin, because of one of several possible genetic defects. In Type 1 albinism defects in the metabolism of tyrosine lead to failure in converting this amino acid to melanin. This is due to a genetic defect in tyrosinase the enzyme responsible for metabolizing tyrosine.

79. Genetics Of Coat Color In Cattle Animal genetics 30241242. Some people think of albino when they hear white.The calf above is an albino and she has no pigment production at all, http://skyway.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 (MC1R or E locus) Agouti Locus White Yellow or Mouse ... 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 January 19, 2005 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. It was donated by Al Ewen, who retired as Head of the Department of Animal Husbandry in 1952 when he returned to Aberdeernshire, Scotland. 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.

80. Understanding Genetics: Human Health And The Genome Understanding genetics an online exhibition about genetics and human health . To “cure” this albino mouse, the scientists needed to know which specific http://www.thetech.org/genetics/ask.php?id=49

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