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Albinism Genetics: more detail

Albinism: An entry from Thomson Gale's Gale Encyclopedia of Genetic Disorders, 2nd ed. by Melissa Knopper, 2005

Hermansky-Pudlak syndrome: An entry from Thomson Gale's Gale Encyclopedia of Genetic Disorders, 2nd ed. by Suzanne, MS, CGC Carter, 2005

Griscelli syndrome: An entry from Thomson Gale's Gale Encyclopedia of Genetic Disorders, 2nd ed. by Sonya Kunkle, 2005

Albinism Among the Hopi Indians in Arizona (reprinted from The American Journal of Human Genetics, Volume 14, Number 4, December, 1962) by Charles M. Woolf, Robert B. Grant, 1962

HECTOR'S INHERITANCE by Horatio Alger, 2010-02-12

Hector's Inheritance - Horatio Alger, JR. by JR. Horatio Alger, 2010-01-28

Hector's Inheritance - Horatio Alger by Horatio Alger, 2010-01-28

lists with details

GCD Faculty: William S. Oetting, Ph.D.
231249. Oetting WS, albinism genetics, in Nature Encyclopedia ofthe Human Genome, Nature Publishing Group, London (in press).
http://www.gcd.med.umn.edu/faculty/oetting.html

Extractions: My research involves two major areas: the molecular analysis of pigment genes in humans, particularly those genes associated with oculocutaneous albinism (OCA), and the molecular analysis of genes associated with common genetic diseases. The latter area of research includes the analysis of genes involved solid organ transplantation rejection, and asthma. My research with OCA involves the analysis of several genes associated with pigment formation, including the tyrosinase gene (associated with OCA1), the P gene (associated with OCA2) and the TYRP1 gene (associated with OCA3). I am particularly interested in the missense mutations of tyrosinase, some of which result in partial enzymatic activity, and how they can help provide an understanding of the structure/function of this enzyme. This has led to my interest in computer modeling of the tyrosinase protein structure and involvement in helping determine the three dimensional structure of tyrosinase, as well as expression studies of tyrosinase mutations that produce residual activity enzymes, in an effort to further understand the structure/function of tyrosinase. This research is done in collaboration with Dr. Richard King and Dr. Carrie Wilmot.
Article Review
Oetting. William S. albinism genetics. Genes and Disease
http://ehg.naturereference.com/EHGreview3.htm

Extractions: Author surname Author forename Article title Section Ref Holmquist Gerald Chromosomal bands and sequence features Structural Genomics Ebstein Richard P DRD4 'box score' Behavioural and Psychiatric Genetics Holm Soren Data protection legislation Ethical, Legal and Social Issues Holm Soren Human genetic research: ethical and legal consent Ethical, Legal and Social Issues Guo Sun-Wei China: the Maternal and Child Health Law Ethical, Legal and Social Issues Zonderman Alan B Vandenberg, Steven Biographies Takeda Shunichi DNA recombination Functional Genomics Egly Jean-Marc Coordination of transcription regulation Functional Genomics Choo KH Andy Nucleic acid hybridization Genome Mapping, Gene Mapping and Sequencing Deloukas Panos Radiation hybrid mapping Genome Mapping, Gene Mapping and Sequencing Fernando Rohan L Kinship and inbreeding Mathematical Genetics Mott Richard QTL mapping software Mathematical Genetics Stricker Christian Segregation analysis software Mathematical Genetics Croucher Peter J P Linkage disequilibrium Mathematical Genetics Spielman Richard Relatives-based tests of association Mathematical Genetics Gwinn Marta Epidemiologial tools Mathematical Genetics
Albinism; Treatment, Prevention, Cure
Types of albinism, genetics of albinism. Famous People with albinism
http://www.healthlinkusa.com/content/7.html
Albinism
Image that's a link to genetics Education Center Support Page albinismNational Organization for albinism and Hypopigmentation (NOAH
http://www.kumc.edu/gec/support/albinism.html

Extractions: Phone: 800 473-2310, Phone and Fax: 603 887-2310 Web site: http://www.albinism.org/ International Albinism Center , University of Minnesota Vision of Children Foundation , San Diego, hereditary childhood blindness, x-linked ocular albinism, other blindness Albinism , Netherlands, includes drawings of effects on eye Albinism , Denmark Assosiation For Albinism (NFFA), Norway Hermansky Pudlak Syndrome Network Also See: National organizations information on genetic conditions or birth defects Information for Siblings and Family Members Health Resource Directory National Health Information Center Online Mendelian Inheritance in Man (OMIM), albinism Redefining Beauty , Life Magazine, http://www.rickguidotti.com/
Genetics Education Center
Geared towards educators, students and health professionals, this guide offers educational and clinical resources regarding human genetics. for Advancement of Science (incorrect information on albinism). Understanding Gene Testing brochure NIH/National
http://www.kumc.edu/gec

Extractions: Genetics Education Center University of Kansas Medical Center For educators interested in human genetics and the human genome project Human Genome Project Resources (books, videos, curricula) Lesson Plans Networking Genetic Conditions Careers ... Search The Human Genome Project Genetic Education Resources Resources curricula books videotapes ... Genetic Lesson Plans - from teachers in KUMC and other programs Genetic Conditions - support groups, addresses, links
Albinism; Treatment, Prevention, Cure
Previous Page 2 of 3 Next. Types of albinism, genetics of albinism.Facts about albinism. albinism Treatment aims to ease symptoms
http://www.healthlinkusa.com/7B.asp

Extractions: Links to websites which may include treatment, cures, diagnosis, prevention, support groups, email lists, messageboards, personal stories, risk factors, statistics, research and more. Featured Sites Become a Featured Site? Famous People with Albinism: Yellowman: Reggae Rebel General Information on Albinism 40 featured health areas. Select a Featured Area here Alternative Medicine Bladder Disorders Blood/Lymphatic System Cancer Cardiology Digestive System Digestive Health Endocrine System (Hormones) Environmental Health Genetics/Birth Defects Immune System/AIDS Infections Men's Health Pain Management Reproduction,Pregnancy,Birth
Ask NOAH About: Genetic Disorders
Achromatopsia Adrenoleukodystrophy Aicardi Syndrome albinism/Hypopigmentation AlexanderDisease OtoRenal (BOR) Syndrome Cancer genetics Cephalic Disorders
http://www.noah-health.org/english/illness/genetic_diseases/geneticdis.html

Extractions: Ask NOAH About: Genetic Disorders is a work-in-progess on diseases that have a known or suspected genetic origin. This page will attempt to keep pace with the the Human Genome Project's published breakthoughs on genetic medicine. If the genetic disorder you need information on is not listed here, please try the NOAH search engine . For information on basic genetics, please visit Ask NOAH About: Genetics, Genomes, Cell Biology, and Cloning What are Genetic Diseases? Genetics Basics Information Resources What Are Genetic Diseases? Genetics Basics The Basics Birth Defects - Merck Manual, Home Edition Changes to Chromosomes - New South Wales Genetics Program, Australia Changes to Chromosomes: Translocations - New South Wales Genetics Program, Australia ... Genetics and Neuromuscular Diseases - Muscular Dystrophy Association (also in Spanish Genetics Overview - Merck Manual Home Edition Genes and Disease - NCBI ... What are Genetic Disorders? - U of Utah
International Albinism Center
Researchers and clinical geneticists at the University of Minnesota convey findings, papers, term definitions and links to more sites. albinism in humans. We are a multidisciplinary group of researchers that include interests in clinical genetics,
http://www.cbc.umn.edu/iac

Extractions: The International Albinism Center is a team of dedicated research professionals interested in understanding the basis of albinism in humans. We are a multi-disciplinary group of researchers that include interests in clinical genetics, molecular biology, ophthalmology, dermatology, and biochemistry, all with a central theme of understanding the cause and effect of albinism and other forms of pigment loss in humans. We have published several papers on different aspects of albinism as a result of this collaborative effort. This is an electronic copy of the publication Facts About Albinism written by Drs. Richard A. King, C. Gail Summers, James W. Haefemeyer and Bonnie LeRoy. This is a good source of basic information about albinism. This also contains a list of Definitions of Words at the end of the book. This is a link to a review paper on the different types of albinism and the affect of albinism on the eye. Are you doing a report on albinism?
Axolotls - Genetics
Article which includes a table of color varients and a series of photographs.Category Science Biology genetics Eukaryotic Animal AmphibiaThis page will attempt to give a brief overview of axolotl genetics, mainly from Forexample, the allele that controls albinism could be found in an axolotl in
http://www.caudata.org/axolotl/genetics.htm

Extractions: The Axolotl is studied around the world for a number of reasons, as mentioned on the cover page of this site, but all of the traits which make it so suitable for study, as for all living things, are dependent on its genes. This page will attempt to give a brief overview of axolotl genetics, mainly from the viewpoint of the hobbyist, who tends to be most interested in colour. In the same way that a/a results in a lack of melanophores, m/m (melanoid) results in a lack of iridophores. Such animals are very dark, with no reflective pigment cells at all. M/m or M/M would result in normal iridophore development. Animals homozygous for ax (i.e. ax/ax) are axanthic, meaning they have no visible xanthophores or iridophores. Such animals are almost as dark as melanoids. Animals homozygous for both the albino gene and the axanthic gene appear to be slightly off-white (yellowish). The following table summarises the colour genes. You may have noticed the d gene. This gene is a developmental mutant and not a pigment mutant like the others. Animals homozygous or heterozygous for D produce large numbers of yellow xanthophores. In combination with melanophores, we get the wildtype colouration (dark brown/olive-green). However, in animals homozygous for d, the normal pigment cells are produced, but they never migrate off the neural crest of the embryonic animal, resulting in the white phenotype. This phenotype is white, but has dark eyes. It is known as leucistic. d/d in combination with the a/a mutation, gives a white albino.
Re: Can 2 Parents Without Albinism, Have A Child With Albinism?
Date Wed Dec 19 124409 2001 Posted By Man Mohan, Grad student, Oncology, Institute of Cytology and Preventive Oncology Area of science genetics Dear Rachel I am sorry for replying late.
http://www.madsci.org/posts/archives/dec2001/1008828215.Ge.r.html

Extractions: 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/
GCD Faculty: Richard King, M.D., Ph.D.
in the human orthologue of the mouse underwhite gene (uw) underlie a new form ofoculocutaneous albinism, OCA4. American Journal of Human genetics 69981988
http://www.gcd.med.umn.edu/faculty/king.html

Extractions: M.D. Jefferson Medical College, Philadelphia, 1965. Ph.D. University of Minnesota, 1975. E-mail:kingx002@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. Recent Publications: King RA, Rotter J and Motulsky AG, editors. Genetic Basis of Common Diseases, 2ed Edition. Oxford University Press, New York, 2002. 141. Mathias RA, Friedhoff LR, Blumenthal MN, Meyers DA, Lester L, King RA, Xu JF, Solway J, Barnes KC, Pierce J, Stein OC, Togias A, Oetting WS, Marshik PL, Hetmanski JB, Huang SK, Ehrlich E, Dunston GM, Malveaux F, Banks-Schlegel S, Cox NJ, Bleecker E, Ober C, Beaty TH, Rich SS, and the CSGA. A genome-wide linkage analysis of total serum IgE using variance components analysis in asthmatic families. Genetic Epidemiology 20:340-355, 2001.
GenSimRec.html
an entire clutch of the simple recessive gene albinism. There are no normal appearinganimals. Summary we have now taken a simple example of genetics using a
http://www.newenglandreptile.com/CareInfo/GenSimRec.html

Extractions: This bit of drivel is intended to create a basic knowledge of herp genetics. In my case I rely on python pattern and color mutations as example. First we need to apply basic genetics to understand color and pattern mutations. We tend to work with numbers that are theoretical expected ratios, the reality of these numbers works better with larger clutch sizes. Smaller clutch sizes often provide disproportional theoretical results. The following punnett square displays the gene pairing of two animals. The "N N" pair denotes the gene pair of alleles of normal appearing animals with no unusual genes. Row 1 is one adult and column 1 is the other adult. #1 Denotes breeding two normals N N N N Denotes the resulting offspring N N N NN NN N NN NN The resulting offspring are divided into groups of 25%, when combined they equal the 100% of the clutch. All babies resulting are A simple recessive mutation - a gene that has proven itself as an inheritable gentic trait. When a visible mutation is bred to a normal appearing non gene carrier the resulting offspring are normal appearing animals that carry the genetics of that mutation. These offspring are known as heterozygous. They carry the genetics of the mutation but visually look normal. Examples of this mutation in ball pythons - Albino, Axanthic, Caramel Albino, Genetic Striped, Clown, Piebald, Ghost are a few.
GenDblHet.html
They carry the genetics of the mutation but visually look normal. In our casehere we shall use the gene of albinism which is a proven simple recessive
http://www.newenglandreptile.com/CareInfo/GenDblHet.html

Extractions: First we need to apply basic genetics to understand color and pattern mutations. We tend to work with numbers that are theoretical expected ratios, the reality of these numbers works better with larger clutch sizes. Smaller clutch sizes often provide disproportional theoretical results. The following punnett square displays the gene pairing of two animals. The "N N" pair denotes the gene pair of alleles of normal appearing animals with no unusual genes. Row 1 is one adult and column 1 is the other adult. #1 Denotes breeding two normals N N N N Denotes the resulting offspring N N N NN NN N NN NN The resulting offspring are divided into groups of 25%, when combined they equal the 100% of the clutch. All babies resulting are A simple recessive mutation - a gene that has proven itself as an inheritable gentic trait. When a visible mutation is bred to a normal appearing non gene carrier the resulting offspring are normal appearing animals that carry the genetics of that mutation. These offspring are known as heterozygous. They carry the genetics of the mutation but visually look normal.
Internet Public Library: Genetics
Includes references to albinism in film, literature, and public figures. ElectronicScholarly Publishing Classic Papers in genetics http//www.esp.org/ This
http://www.ipl.org/div/subject/browse/sci36.20.00/

Extractions: IPL Recognized in Computerworld Honors Program Recent IPL News IPL Recognized in 2002 Computerworld Honors Program New design for the IPL unveiled! Now offering links to over 20,000 books The study of heredity and variation in orgasnisms. You can also view Magazines Associations on the Net under this heading. Albinism in Popular Culture http://www.lunaeterna.net/popcult/ The site is divided into three sections. "The Details section contains in depth reference information on cloning and related biotechnology's. Go here to find about the history of cloning, the people that have made cloning history, and the techniques used in these ground breaking events. The Reactions section covers the future of cloning as well as the legal, ethical, and more issues involved with cloning. Here you can learn about the various sides and opinions of the cloning debate, see what governments have done to restrict cloning research, and review common public misconceptions about cloning. The Interactions section contains various cloning related activities. Participate in discussions on cloning ethics with other site visitors, perform your own cloning experiment, or respond to [the] cloning poll and questionnaire."
Human Genetics - SAIMR - WITS
albinism in Africa and human pigmentation genetics Principal InvestigatorProf Michele Ramsay. Collaborators Prof J Kromberg (Johannesburg
http://www.health.wits.ac.za/gen/disease.htm

Extractions: Albinism in Africa and human pigmentation genetics Principal Investigator: Prof Michele Ramsay Collaborators: Prof J Kromberg (Johannesburg - more recently Brisbane), Prof R Nicholls (Philadelphia), Dr R Sturm (Brisbane) and Dr W-H Li (Chicago), Dr S Kidson (Cape Town), Sr E Zwane (Johannesburg) The main objective of this project is to improve our understanding of the different steps involved in the pigmentary pathway through the study of naturally occurring human pigment disorders. Oculocutaneous albinism (OCA) is a common genetic disorder in Africa with major health implications in terms of increased susceptibility to early onset skin cancer and the need for special education in schools for the partially sighted. In South African blacks the prevalence of OCA is 1 in 3900. Two other types of oculocutaneous albinism have been shown to be relatively common in southern African blacks, namely brown and rufous OCA. Brown OCA (BOCA - MIM 203290) has been shown to be allelic to OCA2 in South African blacks, with the majority of affected individuals being compound heterozygotes, with one 2.7kb deletion allele. Rufous OCA (ROCA - MIM 278400) has been shown to be caused by mutations in the tyrosinase-related protein 1 locus on chromosome 9p23. Two mutations, S166X and 368delA account for 0.95 of mutations in 19 unrelated affected individuals. Current projects are aimed at identifying the promoter region of the P gene in order to search for OCA2 and BOCA mutations and at understanding the molecular basis of ephelides (pigmented patches) (see photograph) that occur in a large proportion of OCA2 affected individuals.
Human Genetics - SAIMR - WITS
Ms Angela Turner. Lab Molecular genetics. Supervisor Prof. M. Ramsay. Projecttitle albinism in Africa and human pigmentation genetics. Ms Robyn Labrum.
http://www.health.wits.ac.za/gen/students.htm
Population Genetics
Population genetics. HardyWeinberg Equilibrium. Example albinism in the us is arecessive genetic characteristic. About one in 20,000 inviduals are albinos.
http://fig.cox.miami.edu/Faculty/Tom/bil160sp98/04_popgen.html

Extractions: 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.)
Hair Color - Oculocutaneous Albinism And Griscelli Syndrome
1996 Aug;2(8)3305. Tomita Y. The molecular genetics of albinism and piebaldism.Arch Dermatol. Molecular genetics of oculocutaneous albinism. Hum Mol Genet.
http://www.keratin.com/as/as004.shtml

Extractions: oculocutaneous albinism and griscelli syndrome Home Forums Privacy Advertising ... Home On this page... Albinism - oculocutaneous albinism Albinism is actually a group of several subtly different conditions that have a hereditary error of melanin metabolism in common. Any genetic abnormality of the melanin pigment system in which the synthesis of melanin is reduced or absent can be called albinism. The reduction in melanin synthesis can affect the skin, hair follicles, and eyes, resulting in oculocutaneous albinism (OCA). If the skin and hair are normally pigmented and just the eye pigmentation is affected, the condition is called ocular albinism (OA). There are two types of OCA, type I and type II. The classification of oculocutaneous albinism depends upon the nature of the underlying genetic defect. When a mutated tyrosinase gene produces inactive, less active, or temperature-sensitive tyrosinase, its phenotype is described as tyrosinase-negative (type I-A), yellow-mutant (type I-B), or temperature-sensitive (type I-TS) OCA, respectively. Mutation of the P gene encoding the tyrosine-transporting membrane protein probably occurs in tyrosinase-positive OCA (type II).
OA1 Mutations
King, RA, Ballabio, A. Analysis of the OA1 gene reveals mutations in only onethirdof patients with X-linked ocular albinism. Human Molecular genetics 4 2319
http://www.cbc.umn.edu/tad/oa1mut.html

Extractions: Mutations of the OA1 gene associated with Ocular Albinism (OA1). Deletions of the OA1 gene associated with Ocular Albinism (OA1). Polymorphisms of the OA1 gene. Go to this link for a map of mutations of the OA1 gene associated with Ocular Albinism (OA1) The Albinism Database is part of the International Albinism Center at the University of Minnesota. Name Nucleotide Change Effect on coding Sequence Exon Population OMIM Rosenberg and Schwartz, 1998 Danish Rosenberg and Schwartz, 1998 Deletion of 7 bp at 151 Frameshift France Bassi et al., 2001 Deletion of 29 bp at 165 Frameshift Germany Rudolph et al., 2001 Deletion of T at 175 Frameshift Netherlands Bassi et al., 2001 Insertion of C at 180 Frameshift United States Bassi et al., 2001 Deletion of 17 bp at 215 Frameshift Australian Schiaffino et al., 1995
International Albinism Center Research Team
of the International albinism Center Research Team. Directors Dr. Richard A.King, MD, Ph.D. Professor Director of the Division of genetics Department of
http://www.cbc.umn.edu/iac/team.htm

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