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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

Albino Gene
Dear Edmund Please see the section entitled, genetics of albinism on thefollowing web site from The National Organization for albinism and
http://www.newton.dep.anl.gov/askasci/mole00/mole00300.htm

Extractions: name Edmund A.H. status other age 50s Question - Please explain the "albino gene" and implications related therto for a infant with that diagnosis. Dear Edmund: Please see the section entitled, "Genetics of Albinism" on the following web site from The National Organization for Albinism and Hypopigmentation (NOAH): http://www.albinism.org/publications/what_is_albinism.html If you are interested, a wealth of other info. on albinism in general is also included in this helpful WWW resource. I hope that this is useful for you, Jeff Buzby, Ph.D. Children's Hosp. of Orange Cnty. NEWTON AAS Division of Educational Programs Argonne National Laboratory =========================================================
U Of M: Department Of Genetics, Cell Biology And Development
oculocutaneous albinism as a model system, and the identification of theCollaborative Study on the genetics of Asthma (CSGA). Genomewide screens,
http://www.gcd.med.umn.edu/html/faculty pages/king.html
Albinism; What Is Albinism (Bianca Knowlton)
See also, genetics of albinism and Eye Conditions in albinism. genetics ofalbinism (top) For nearly all types of albinism both parents must carry an
http://www.knowlton.clara.net/family/Albinism/what_is_albinism.htm

Extractions: T 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. For people like myself, (full, OCA1)) the stats are estimated as 1 in 7 have all 3 (red eyes, white hair, white skin) so this form is quite rare...... but hey.... always thought I was unique...... 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".
Albinism; What Is Albinism (Large Version)(Bianca Knowlton)
Type 1 albinism results from a genetic defect in an enzyme called tyrosinase . genetics of albinism (top) For nearly all types of albinism both parents
http://www.knowlton.clara.net/family/Albinism/what_is_albinism_large.htm

Extractions: WHAT IS ALBINISM The Technical stuff (more information coming soon....) CONTENTS 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.
Gene Stories - Health
The genetics of albinism. Several different genes are involved with Type 1albinism results from a genetic defect in an enzyme called tyrosinase.
http://www.bbc.co.uk/health/genes/disorders/recessive_2.shtml

Extractions: An example of recessive inheritance: albinism Our facial features, just like the rest of our body, are 'designed' by our genes. Albinism is a group of conditions where people are born with little or no pigmentation in their eyes, skin and hair (or sometimes just in the eyes alone). It occurs because they have inherited one or more faulty genes that do not produce the usual amounts of a pigment called Melanin. Apart from their physical appearance, those with the condition can experience a number of associated problems, depending on which genetic type they have. Particularly common are problems with vision and from skin burning in sunlight. About 1 in 17,000 children born in the UK have some type of Albinism. It affects all races, but may be slightly more common in some, such as those of black African origin. The genetics of albinism Several different genes are involved with pigment production, including genes on chromosomes 9,10, 11,13,15 and X, but it's not clear exactly what role each of these plays in the condition. In most cases there is no family history and the children are born to parents with normal pigmentation for their race.
BBC - H2g2 - Albinism
albinism is a genetic condition which results in a lack of pigmentation in the eyes, For further details on genetics and other aspects of albinism,
http://www.bbc.co.uk/dna/h2g2/A622432

Extractions: Albinism is a genetic condition which results in a lack of pigmentation in the eyes, skin and hair . It is an inherited condition caused by altered genes being passed on from an individual's parents. Various problems with vision and eyesight can result from the condition. Lack of Pigmentation The altered gene which results in albinism prevents the body making the usual amounts of a pigment called melanin . Melanin helps protect the skin from ultraviolet light coming from the Sun . People with albinism lack this protective pigment in their skin, and can burn easily from exposure to the Sun as a result. Lack of melanin in the eye results in problems with vision, as the eye will not develop properly without the pigment. Individuals with albinism often have white hair and pale skin which makes them stand out from their families and friends, and from other members of their ethnic group. This can lead to social problems. Growth and development of children with albinism should be normal, however, as should their general health, life span, intelligence, and ability to have children.
Archived Posts Index: Genetics
genetics Can 2 parents without albinism, have a child with albinism? genetics How did the gene to form albino or dwarfism appear, was man created with
http://www.madsci.org/cgi-bin/cgiwrap/www/index?archives/dec2001:Ge
BioEd Online Slides: Albinism, Sex-linked Traits, Pedigree, Genetics
Developed by Baylor College of Medicine, BioEd Online provides upto-date teacherresources for biology educators. Site features include a PowerPoint slide
http://www.bioedonline.org/slides/slide01.cfm?q=albinism
BioEd Online Slides: Pedigree, Sex-linked Traits, Inheritance Patterns
In general, genotype refers to the genetic makeup of an individual. People expressing albinism lack pigmentation in their eyes and skin (among other
http://www.bioedonline.org/slides/slide01.cfm?q=pedigree
Syndromic Albinism: A Review Of Genetics And Phenotypes
Syndromic albinism A review of genetics and phenotypes Noah S Scheinfeld MD JDDermatology Online Journal 9 (5) 5. From the Department of Dermatology,
http://dermatology.cdlib.org/95/reviews/albinism/scheinfeld.html

Extractions: From the Department of Dermatology, St. Luke's-Roosevelt Hospital Center and Beth Israel Medical Center, New York. scheinfeld@earthlink.net There are several syndromes of albinism associated with systemic pathology. These include Chediak-Higashi Syndrome (CHS), Hermansky-Pudlack Syndrome (HPS), Griscelli Syndrome (GS), Elejalde Syndrome (ES) and Cross-McKusick-Breen Syndrome (CMBS). In the last several years the genetic defects underlying some of these syndromes have been described. HPS is related to 7 genes in humans. GS is related to 3 genes: MYOVA, Rab-27A, and melanophilin (Mlph). CHS is related to one gene: LYST. The genetic defects in ES and CMBS are yet to be defined. Syndromic forms of albinism are associated with defects in the packaging of melanin and other cellular proteins. As such they are distinct from oculocutaneous albinism, which is associated with defects in the production of melanin (e.g., TRP1, P gene, and tyrosinase). There are several syndromes of albinism associated with systemic pathology. These include Chediak-Higashi Syndrome (CHS), Hermansky-Pudlack Syndrome (HPS), Griscelli Syndrome (GS), Elejalde Syndrome (ES), and Cross-McKusick-Breen Syndrome (CMBS). In the last several years, genetic defects underlying some of these syndromes have been described (Table 1). Moreover, variants and novel clinical phenotypes have been described as well. The common etiologic element of these syndromes seems to involve defective formation of secretory vesicles and lysosomes. This article reviews these syndromes with particular attention on newly described genetic defects and phenotypes.
Colour Genetics
ACROMELANIC albinism IN MAMMALS. Robinson, R. 1973. genetics, 44, 454458.* First report on a coat colour mutant in the Mongolian gerbil.
http://www.gerbil-info.com/html/litscicol.htm

Extractions: Seizure tendencies of three separate lines of Mongolian gerbils Meriones unguiculatus carrying three different coat color alleles were investigated. These alleles were agouti (A/-), black or nonagouti (a/a), or sandy (pink-eyed dilution p/p). Each animal was stroked on the back and then placed in a novel cage for 5 min while its seizure activity was measured in terms of latency, duration, and severity (grade). The results indicate that gerbils which are homozygous recessive at the pink-eyed dillution locus (sandy) exhibit less severe and shorter seizures than others. However, gerbils which are homozygous recessive at the agouti gene locus (black) show a shorter latency to manifest seizures than the other animals. These results indicate that the genetic mechanism determining coat color in Mongolian gerbils may also influence the susceptibility of these animals to seizure arising from novel situations.
Human Genetics - NHLS - WITS
albinism comprises a heterogeneous group of inherited disorders of the melanin The Molecular genetics Laboratory of the Department of Human genetics
http://www.health.wits.ac.za/gen/genet_disorders_lista-d.htm

Extractions: Albinism Albinism comprises a heterogeneous group of inherited disorders of the melanin biosynthesis pathway. Patients present with absence or reduction of pigment (hypomelanosis or hypopigmentation) that is limited to the eye (ocular albinism), or involves the eyes, hair and skin (oculocutaneous albinism, OCA). Nystagmus (fast, rhythmical movement of the eye), decreased visual acuity and photophobia (sensitivity to light) are also symptoms of albinism. Ten types of albinism have been described to date. All types, except X-linked ocular albinism, are inherited as autosomal recessive conditions. Tyrosinase-positive oculocutaneous albinism (OCA2) is the most prevalent type of albinism throughout the world. In addition to poor vision, people with oculocutaneous albinism have hypopigmented skin which sunburns very easily and is highly susceptible to skin cancer. Although young children with albinism may be slower to crawl and walk due to visual problems, it is important to remember that intelligence is within the normal range in this disorder. OCA2 is caused by mutations in the P gene on chromosome 15. Oculocutaneous albinism (OCA2) is the most common autosomal recessive disorder among southern African blacks, with a prevalence of 1 in 3900 individuals (while only 1 in 15 000 white people in southern Africa are affected). There are about 10,000 affected individuals in South Africa. Brown OCA (BOCA) and rufous OCA (ROCA) account for most of the remaining cases in the black population. Tyrosinase-negative oculocutaneous albinism (OCA1) is caused by mutations in the Tyrosinase gene on chromosome 11. To date, OCA1 has not been described in black Africans. Caucasoid patients may be affected with either OCA1 or OCA2, with approximate equal frequencies.
Human Genetics - NHLS - WITS
albinism in Africa and human pigmentation genetics Oculocutaneous albinism (OCA)is a common genetic disorder in Africa with major health implications
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.
Department Of Human Genetics, School Of Medicine, Emory University : Ask The Gen
The Department of Human genetics does not currently accept or host I m marriedto a girl whose father has albinism. There is no albinism in my family
http://server2k.genetics.emory.edu/ask/user/view_topic.pl?topic=27&temp=3
YORK CHOCOLATE GENETICS
*The albinism Gene à controls the amount of body color and comes in five 4 Robinson s genetics for Cat Breeders and Veterinarians Autori Vella,
http://www.iycf.org/york_chocolate_genetics.htm

Extractions: Today, every world feline lovers and genetic experts are very interesting on the last two features of the York. The lacking under-coat Lacking under-coat surely is the most important phenotype characterizing the breed. Many researches and crossing experiments would confirm the existence of a gene controlling the under coat expression. In particular, collecting many informations from York Chocolate pedigree and applying statistical formulations on a lot of observations the Mendel lows would result perfectly verified.
Curiosity Rats
I have done a lot of research on rat genetics and come up with some of my own The most classic example is albinism. Any rat that is cc is albino
http://www.curiosityrats.com/genetics.html

Extractions: I have done a lot of research on rat genetics and come up with some of my own assumptions. Anyway, here are my findings. My resources include clubs, breeders, and my own deductions based on others' breedings as well as my knowledge of other animals' genetics. Most of my knowledge of basic genetics comes from high school biology books I read as a child (in elementary school) as well as my introductory undergraduate biology class. What I know of rat genetics, I found on the internet. Here are some of my resources: Genetics is a word that scares people. It sounds like a really tough subject. No one (except nuts like me) would want to learn/discuss genetics for fun. Genetics can be complicated on some levels, talking about DNA structure, meiosis, how and why mutations occur... BUT I'm not going to discuss any of that here. For a breeder or any person interested in inheritance, you only need to understand Mendelian genetics (also called "Classical" or "Transmission" genetics).
Genetics: Colour Blindness And Albinism
Hi Dan Color blindness and albinism are two different types of genetic anomalies Color blindness is generally sexlinked whereas albinism is autosomal.
http://experts.about.com/q/1795/3767360.htm

Extractions: On the X chromosome, there lies at least a gene that encodes a protein necessary for color recognitionsince males only have one X chromosome, whereas females have two, males are far more likely to exhibit color blindness as they cannot have a dominant allele (on the second X chromosome) to mask the effect. Albinism is somewhat differentthere is not a single gene 10 or so different types of oculocutaneous albinism. But, in order to exhibit albinism, one must inherit a mutant allele from both the mother and the father (whereas males only receive an X chromosome from the mother), thus males and females are affected equally for autosomal disorders. The disease is characterized either by the failure to synthesize pigment proteins or the failure of integretory proteins to implement them into tissue.
Understanding Genetics: Human Health And The Genome
Understanding genetics an online exhibition about genetics and human health . More Information. Facts about albinism Red hair genetics
http://www.thetech.org/genetics/ask.php?id=67
Bengal Cats: Genetics Of Cats, Domestic Cat Genetics & Wild Cat Genetics, Chromo
Feline genetics; Color, Coat, Mutations, Breeding, Alleles, Chromosomes and This allele produces a moderate albinism, reducing the basic coat color from
http://www.hdw-inc.com/genetics.htm

Extractions: Basically, the study of genetics is the fascinating study of the evolution of life itself , on a much smaller scale. The method of passing the genetic code of the parents to the next generation through the "germ" cells (ova in females and sperm in males), is one of the most awesome and incredibly beautiful processes in nature. Long, irregular threads of genetic material called chromosomes are found within the nucleus of a cell, and they are arranged in pairs. Cats have 19 pairs of chromosomes; people have 23 pairs of chromosomes. For cats, it is these 38 chromosomes which make up the unique, individual "blueprint" for that animal. The chromosomes are covered with hundreds of thousands to millions of light and dark colored bands which are the actual genetic codes, called genes. Each gene controls a single feature or a group of features in the makeup of an individual. Even this concept becomes more complicated as many of the genes interact with other genes! A single feature of an individual may be controlled by many different genes, which makes "mapping" of the genes very difficult, and for cats, only a few major genes have been mapped out to date.
Molecular Genetics Of Oculocutaneous Albinism -- Spritz 3 (Supplement 1): 1469 -
Department of Medical genetics, University of Wisconsin, Madison 53706. albinism isa group of genetic disorders characterized by deficient synthesis of
http://hmg.oxfordjournals.org/cgi/content/abstract/3/suppl_1/1469

Extractions: @import "/resource/css/hw.css"; @import "/resource/css/hmg.css"; Skip Navigation Oxford Journals This Article Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Request Permissions PubMed PubMed Citation Articles by Spritz, R. A. RA Spritz Department of Medical Genetics, University of Wisconsin, Madison 53706. Albinism is a group of genetic disorders characterized by deficient synthesis of melanin pigment. In oculocutaneous albinism (OCA) the pigment deficiency involves the skin, hair, and eyes, whereas in ocular albinism (OA) the defect involves principally the visual system. Type I (tyrosinase-deficient) OCA results from deficient catalytic activity of tyrosinase, which catalyzes at least three steps in the melanin biosynthetic pathway. Type II (tyrosinase-positive) OCA results from

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