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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

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://skyway.usask.ca/~schmutz/colors.html

Extractions: Genetics of Coat Color in Cattle a brief review of what is currently known about the genes controlling cattle coat colors and patterns Patterns 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 February 13, 2004 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.
Albinism
albinism. albinism .gif (100433 bytes) view 98 KB version view 7 KB version.This is a patient who has albinism. Examinations Photographs
http://medgen.genetics.utah.edu/photographs/pages/albinism.htm
Ocular Albinism
Ocular albinism. Carrier for Ocular albinism 52a.gif (974536 bytes)view 952 KB version view 7 KB version, Ocular albinism 52b.gif
http://medgen.genetics.utah.edu/photographs/pages/ocular_albinism.htm
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).
U Of M: Department Of Genetics, Cell Biology And Development
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/html/faculty pages/king.html
Human Genetics
Several mutations may cause albinism 1) the lack of one or another genetics EducationCenter (University of Kansas); ECCLES INSTITUTE OF HUMAN genetics A
http://www.emc.maricopa.edu/faculty/farabee/BIOBK/BioBookhumgen.html

Extractions: Table of Contents The human karyotype Human chromosomal abnormalities Human allelic disorders (recessive) Human allelic disorders (dominant) ... There are 44 autosomes and 2 sex chromosomes in the human genome , for a total of 46. Karyotypes are pictures of homologous chromosomes lined up together during Metaphase I of meiosis. The chromosome micrographs are then arranged by size and pasted onto a sheet. Click here for a larger picture This picture is from The Primate Cytogenetics Network at ( http://www.selu.com/~bio/cyto/karyotypes/Hominidae/Hominidae.html A common abnormality is caused by nondisjunction , the failure of replicated chromosomes to segregate during Anaphase II. A gamete lacking a chromosome cannot produce a viable embryo. Occasionally a gamete with n+1 chromosomes can produce a viable embryo. In humans, nondisjunction is most often associated with the 21st chromosome, producing a disease known as Down's syndrome (also referred to as trisomy 21). Sufferers of Down's syndrome suffer mild to severe mental retardation, short stocky body type, large tongue leading to speech difficulties, and (in those who survive into middle-age), a propensity to develop Alzheimer's Disease. Ninety-five percent of Down's cases result from nondisjunction of chromosome 21. Occasional cases result from a translocation in the chromosomes of one parent. Remember that a translocation occurs when one chromosome (or a fragment) is transferred to a non-homologous chromosome. The incidence of Down's Syndrome increases with age of the mother, although 25% of the cases result from an extra chromosome from the father. Click
Albinism
genetics of albinism For nearly all types of albinism both parents mustcarry an albinism gene to have a child with albinism. Because
http://eyeconditions.homestead.com/Albinism.html

Extractions: Types of Albinism: While most people with albinism have very light skin and hair, not all do. Oculocutaneous (pronounced Ock-you-low-kew-Tain-ee-us) albinism involves the eyes, hair, and skin. Ocular albinism involves primarily the eyes, while skin and hair may appear similar or slightly lighter than that of other family members. Researchers have identified several other genes that cause forms of albinism. In one form of albinism, the Hermansky-Pudlak syndrome, there can be problems with bleeding, and with lung and bowel disease as well. Hermansky-Pudlak syndrome is a less common form of albinism, but should be suspected if a child with albinism shows unusual bruising or bleeding.
GENETICS
provides information on the vision problems associated with albinism and thegenetics of albinism; from the National Organization for albinism and
http://library.brynmawrschool.org/genetics_project.htm

Extractions: A B C D ... Z GENETICS PROJECT For resources from the Bryn Mawr Library, click on Bibliography . Also, search on SIRS Discoverer and ProQuest, which are periodical subscription databases accessible from the library's main page. Go to "Virtual Internet Library," then "Online Resources." Using the resources provided, you should be able to determine the causes, symptoms, treatments, and the ways they are inherited for the following genetic disorders: Websites useful for more than one disease Achondroplasia (dwarfism) Neurofibromatosis (elephant man's disease) Albinism ... Huntington's Disease Websites Useful for More than One Topic: DNA from the Beginning, an Animated Primer on the Basics of DNA, Genes, and Heredity - Prepared by the Dolan DNA Learning Center, Cold Spring Harbor, NY. DNA Interactive - Also from Dolan DNA Learning Center; Excellent Graphics
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.
Albinism (Albino) - Medical Encyclopedia For Nursing Students
Table of contents. 1 Lack of Pigmentation. 2 Classification. 3 Visual Problems Associatedwith albinism. 4 genetics. 5 Animals. Cats also can carry genetic albinism.
http://www.nursingstudy.com/encyclopedia/Albinism.html

Extractions: Surgical Procedures 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. This entry is intended only to cover human albinism, although many of the features mentioned would probably also apply to albinism in animals. Table of contents 1 Lack of Pigmentation 5 Animals The altered gene which results in albinism prevents the body from making the usual amounts of a pigment called melanin. Melanin helps protect the skin from ultraviolet light coming from the Sun (see human skin color for more information). 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 (called albinos) 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.
Albinism Mutations - Tufts Breeding & Genetics 2003
similar phenotypes and the search is continuing for the complete albinism mutation. CopyrightTufts Canine and Feline Breeding and genetics Conference, 2003.
http://www.vin.com/proceedings/Proceedings.plx?CID=TUFTSBG2003&PID=5111&O=Generi
ALBINISM 101
THE X S AND Y S .Ah, the wonderful world of genetics! Approximately 1 in 17,000people have albinism. The birth rate is even fewer around the world.
http://www.brookefox.com/ALBINISM_FAQ.htm

Extractions: NEWSFLASH! I'VE BEEN "PUBLISHED" Both t he BRAILLE MONITOR from the NATIONAL FEDERATION OF THE BLIND (the world's largest organization of blind people) and NOAH NEWS , the voice for the albinism community, have printed my article "The Art Of Albinism". Read it here! ALL ABOUT ALBINISM Welcome to my little collection of factoids and life experiences as an artist-lady with albinism, a rare genetic trait which causes legal blindness and a lack of pigment in the hair, skin and eyes. THE X'S AND Y'S.... Ah, the wonderful world of genetics! Approximately 1 in 17,000 people have albinism. The birth rate is even fewer around the world. For example, in Russia its almost 1 in 100,000. There are a few different types of albinism. I have Oculocutaneous Albinism, which is passed down by a recessive gene. Both my parents have a specific albinism recessive gene, which had been carried u nknowingly by their families for generations. I was their second child, the first being a normally pigmented, totally healthy girl. So imagine their surprise! Even though both my parents have the gene, it was only a 1 in 4 chance they would have a child with albinism. My chance of passing on the gene is slim as well.
Canine Color Genetics Links - Koirien Värigenetiikkaa Englanniksi
by Ione L. Smith about problems with white Dobermanns (ok 200305-20) http//www.geocities.com/~amazondoc/albinism/ albinoinheritance.genetics of Coat Color in
http://www.hut.fi/u/lsarakon/canlinks.html
Genetics
genetics Monohybrid Problems. The following problems relate to albinism a representsthe gene for albinism, A represents the gene for normal pigmentation.
http://www.3rd1000.com/tests/mono1.htm

Extractions: Genetics - Monohybrid Problems The following problems relate to albinism "a" represents the gene for albinism, "A" represents the gene for normal pigmentation. 1. If in humans, AA marries aa, what would be the expected genotypes and phenotypes, and their expected ratio (if more than one type appears) on the assumption that there are many children? 2. Aa marries aa. There are many children. What would be the expected types and ratios? 3. Aa marries Aa. If there are many children, what would the types and ratios expected be? 4. aa marries aa. What would the expected types and ratios be? 5. A normally pigmented man marries an albino woman. If their first child was an albino what would their (the parents) genotype and their child's genotype be? If they have more children what other genotypes could there be? 6. An albino man marries normally pigmented woman. They have 13 children all of whom are normally pigmented. What are the probable genotypes of the children and parents? 7. A normally pigmented man whose father was an albino marries an albino woman both of whose parents were normally pigmented. They have three children, two normally pigmented and one albino. List each of these persons and give their probable genotypes.
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.
Albinism
susceptible to sunburn. =. genetics = albinism is a genetic conditionwhich is inherited from an individual s parents. For OCA, an
http://brandt.kurowski.net/projects/lsa/wiki/view.cgi?doc=717
Department Of Human Genetics, School Of Medicine, Emory University : Ask The Gen
Answer albinism is one of the oldest recognized genetic conditions. The originalgenetic mutations occurred several generations ago in the genes for albinism.
http://server2k.genetics.emory.edu/ask/user/view_response.pl?resp=73&temp=3
Department Of Human Genetics, School Of Medicine, Emory University : Ask The Gen
you to consider having genetic counseling prior to achieving a pregnancy, to obtainmore exact information about your chances to have a child with albinism.
http://server2k.genetics.emory.edu/ask/user/view_response.pl?resp=43&temp=3
Siamese Genetics
Cat Forums. Feline Genetic Loci Table. It is a mutation at the C locus it causespartial albinism. This gene is recessive to the full colour C gene.
http://www.cat-world.com.au/cat-worldsiamesegenetics.htm
Intermediate Genetics Practice Problems
Intermediate genetics Practice Problems. P = purple flowers (dominant),p = white flowers (recessive). albinism = autosomal recessive.
http://www.sewanee.edu/biology/Powell/IntQ.htm

Extractions: P = purple flowers (dominant), p = white flowers (recessive) D = tall (dominant), d = dwarf (recessive) Y = yellow seeds (dominant), y = green seeds (recessive) R = round seeds (dominant), r = wrinkled seeds (recessive) Albinism = autosomal recessive Achondroplasia = autosomal dominant Question 1: If the first child of two non-albino people is albino, what is the probability their second child will also be albino? Question 2: If you cross a homozygous plant with round yellow seeds with a homozygous plant with wrinkled green seeds, what is the probability the progeny will have green wrinkled seeds? Question 3: If you interbreed the progeny from Question 2, what is the probability that the progeny of this cross will have green wrinkled seeds? Question 4: If a person had one albino parent but is not himself albino and marries an unrelated wild type woman, what is the probability their children will be carriers of albinism? Question 5: If you cross two Pp Dd Yy Rr plants together, what is the probability you will have progeny that are also Pp Dd Yy Rr Question 6: If you cross a tall plant with purple flowers with a dwarf plant with white flowers, and all the progeny are tall but some have white and some have purple flowers, then what were the genotypes of the parents?

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