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Latest Publication and Research on Albinism

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  2011 Dec 2  

Variation in the Tyrosinase Gene Associated with a White Humpback Whale (Megaptera novaeangliae).

Polanowski AM, Robinson-Laverick SM, Paton D, Jarman SN

the Australian Marine Mammal Centre, Australian Antarctic Division, 203 Channel Highway Kingston, Tasmania 7050, Australia.

Tyrosinase-negative oculocutaneous albinism (OCA1A) is characterized by lifelong white hair and skin, a phenotype that has been described in most mamm... Read More

Source: PubMed

  2011 Dec 1  

Refractive profile in oculocutaneous albinism and its correlation with final visual outcome.

Yahalom C, Tzur V, Blumenfeld A, Greifner G, Eli D, Rosenmann A, Glanzer S, Anteby I

Hadassah Hebrew University-Medical Center, Jerusalem, Israel.

PurposeTo evaluate the prevalence of refractive errors in different subtypes of oculocutaneous albinism, and to see if there is any correlation betwee... Read More

Source: PubMed

Mem. Inst. Oswaldo Cruz    

Hybridism between Biomphalaria cousini and Biomphalaria amazonica and its susceptibility to Schistosoma mansoni.

Teodoro TM, Jannotti-Passos LK, Carvalho Odos S, Grijalva MJ, Baús EG, Caldeira RL

Laboratório de Helmintologia e Malacologia Médica.

Molecular techniques can aid in the classification of Biomphalaria species because morphological differentiation between these species is difficult. P... Read More

Source: PubMed

Indian J Dermatol    

Hypopigmentary disorders in children in South India.

Sori T, Nath AK, Thappa DM, Jaisankar TJ

Department of Dermatology and STD, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, India.

Hypopigmentary disorders are common group of dermatoses in pediatric age group.... Read More

Source: PubMed

Zhongguo Ying Yong Sheng Li Xue Za Zhi    

[Study of tyrosinase gene mutation in oculocutaneous albinism type 1 patients].

Zheng H, Huang ZG, Wen RQ, Li HY

Department of Physiology, Medical College of Jinan University, Guangzhou 510632, China. tlihzh@jnu.edu.cn

To explore the patients' genotypes and the mutation spectrum of Tyrosinase (TYR) gene and the effects on protein structure and function in oculocutane... Read More

Source: PubMed

Chin. Med. J.    

A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China.

Lin YY, Wei AH, Zhou ZY, Zhu W, He X, Lian S

Department of Dermatology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China.

The mutation of the tyrosinase (TYR) gene results in oculocutaneous albinism type 1 (OCA1), an autosomal recessive genetic disorder. OCA1 is the most ... Read More

Source: PubMed

  2011 Nov 8  

Reading Skills in Children and Adults With Albinism: The Role of Visual Impairment.

Macdonald JT, Kutzbach BR, Holleschau AM, Wyckoff S, Summers CG

PURPOSE:To evaluate whether visual impairment in albinism contributes significantly to the acquisition of normal reading skills. METHODS:The authors a... Read More

Source: PubMed

  2011 Nov 8  

A global view of the OCA2-HERC2 region and pigmentation.

Donnelly MP, Paschou P, Grigorenko E, Gurwitz D, Barta C, Lu RB, Zhukova OV, Kim JJ, Siniscalco M, New M, Li H, Kajuna SL, Manolopoulos VG, Speed WC, Pakstis AJ, Kidd JR, Kidd KK

Department of Genetics, School of Medicine, Yale University, New Haven, CT, 06520, USA.

Mutations in the gene OCA2 are responsible for oculocutaneous albinism type 2, but polymorphisms in and around OCA2 have also been associated with nor... Read More

Source: PubMed

Proc. Natl. Acad. Sci. U.S.A.    

Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria.

Pierce SB, Spurrell CH, Mandell JB, Lee MK, Zeligson S, Bereman MS, Stray SM, Fokstuen S, Maccoss MJ, Levy-Lahad E, King MC, Motulsky AG

Department of Medicine, Division of Medical Genetics, and Department of Genome Sciences, University of Washington, Seattle, WA 98195-7720.

Pentosuria is one of four conditions hypothesized by Archibald Garrod in 1908 to be inborn errors of metabolism. Mutations responsible for the other t... Read More

Source: PubMed

  2011 Nov 1  

Molecular analysis of Korean patients with oculocutaneous albinism.

Park SH, Chae H, Kim Y, Kim M

Department of Ophthalmology and Visual Science, College of Medicine, The Catholic University of Korea, Seoul, Korea.

PURPOSE: To perform molecular analysis of five Korean patients with oculocutaneous albinism (OCA) and review the clinical and ge... Read More

Source: PubMed

  2011 Dec 2  

Variation in the Tyrosinase Gene Associated with a White Humpback Whale (Megaptera novaeangliae).

Polanowski AM, Robinson-Laverick SM, Paton D, Jarman SN

the Australian Marine Mammal Centre, Australian Antarctic Division, 203 Channel Highway Kingston, Tasmania 7050, Australia.

Tyrosinase-negative oculocutaneous albinism (OCA1A) is characterized by lifelong white hair and skin, a phenotype that has been described in most mamm... Read More

Source: PubMed

  2011 Dec 1  

Refractive profile in oculocutaneous albinism and its correlation with final visual outcome.

Yahalom C, Tzur V, Blumenfeld A, Greifner G, Eli D, Rosenmann A, Glanzer S, Anteby I

Hadassah Hebrew University-Medical Center, Jerusalem, Israel.

PurposeTo evaluate the prevalence of refractive errors in different subtypes of oculocutaneous albinism, and to see if there is any correlation betwee... Read More

Source: PubMed

Mem. Inst. Oswaldo Cruz    

Hybridism between Biomphalaria cousini and Biomphalaria amazonica and its susceptibility to Schistosoma mansoni.

Teodoro TM, Jannotti-Passos LK, Carvalho Odos S, Grijalva MJ, Baús EG, Caldeira RL

Laboratório de Helmintologia e Malacologia Médica.

Molecular techniques can aid in the classification of Biomphalaria species because morphological differentiation between these species is difficult. P... Read More

Source: PubMed

Indian J Dermatol    

Hypopigmentary disorders in children in South India.

Sori T, Nath AK, Thappa DM, Jaisankar TJ

Department of Dermatology and STD, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, India.

Hypopigmentary disorders are common group of dermatoses in pediatric age group.... Read More

Source: PubMed

Zhongguo Ying Yong Sheng Li Xue Za Zhi    

[Study of tyrosinase gene mutation in oculocutaneous albinism type 1 patients].

Zheng H, Huang ZG, Wen RQ, Li HY

Department of Physiology, Medical College of Jinan University, Guangzhou 510632, China. tlihzh@jnu.edu.cn

To explore the patients' genotypes and the mutation spectrum of Tyrosinase (TYR) gene and the effects on protein structure and function in oculocutane... Read More

Source: PubMed

Chin. Med. J.    

A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China.

Lin YY, Wei AH, Zhou ZY, Zhu W, He X, Lian S

Department of Dermatology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China.

The mutation of the tyrosinase (TYR) gene results in oculocutaneous albinism type 1 (OCA1), an autosomal recessive genetic disorder. OCA1 is the most ... Read More

Source: PubMed

  2011 Nov 8  

Reading Skills in Children and Adults With Albinism: The Role of Visual Impairment.

Macdonald JT, Kutzbach BR, Holleschau AM, Wyckoff S, Summers CG

PURPOSE:To evaluate whether visual impairment in albinism contributes significantly to the acquisition of normal reading skills. METHODS:The authors a... Read More

Source: PubMed

  2011 Nov 8  

A global view of the OCA2-HERC2 region and pigmentation.

Donnelly MP, Paschou P, Grigorenko E, Gurwitz D, Barta C, Lu RB, Zhukova OV, Kim JJ, Siniscalco M, New M, Li H, Kajuna SL, Manolopoulos VG, Speed WC, Pakstis AJ, Kidd JR, Kidd KK

Department of Genetics, School of Medicine, Yale University, New Haven, CT, 06520, USA.

Mutations in the gene OCA2 are responsible for oculocutaneous albinism type 2, but polymorphisms in and around OCA2 have also been associated with nor... Read More

Source: PubMed

Proc. Natl. Acad. Sci. U.S.A.    

Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria.

Pierce SB, Spurrell CH, Mandell JB, Lee MK, Zeligson S, Bereman MS, Stray SM, Fokstuen S, Maccoss MJ, Levy-Lahad E, King MC, Motulsky AG

Department of Medicine, Division of Medical Genetics, and Department of Genome Sciences, University of Washington, Seattle, WA 98195-7720.

Pentosuria is one of four conditions hypothesized by Archibald Garrod in 1908 to be inborn errors of metabolism. Mutations responsible for the other t... Read More

Source: PubMed

  2011 Nov 1  

Molecular analysis of Korean patients with oculocutaneous albinism.

Park SH, Chae H, Kim Y, Kim M

Department of Ophthalmology and Visual Science, College of Medicine, The Catholic University of Korea, Seoul, Korea.

PURPOSE: To perform molecular analysis of five Korean patients with oculocutaneous albinism (OCA) and review the clinical and ge... Read More

Source: PubMed


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Posted by:  shah1  Posted on: 12/20/2011
hi i m an allied health professional and doing my research on the visual outcome with different optical aids of albinos to enhance their activities of daily life so plz any of u if have informaation about albinism plz send it on my id



Posted by:  pink_y(Guest)  Posted on: 12/04/2011
Hi, I am an albinic girl. I am 29 years old. I am orried about if I marry a guy than shall I have a normal baby or an albenic. What are the risk factors. Please help


Posted by:  Jboyismyfriend  Posted on: 02/28/2012
Yeah, in Biology, I learned things such as Punnet Squares. If 2 capital A’s are in the genotype [AA], then they are not albino. If 2 lowercase a’s are in their genotype (aa), then they will be. If it is one of each (Aa), then they will not be albino, but they can pass it on to their kids. You have aa. Someone without albinism in their family at all is AA. If you marry that dude, your child will be Aa (they will not show albinism, but they can pass it on to their kids. If they marry someone with AA, the child will have a 50% chance of AA and a 50% chance of Aa ). If you marry someone with albinism in their family (Aa [actually, they could be AA also, but it is unlikely {it all depends on the parents}]) then your child will have a 50% chance aa (full albino) and a 50% chance Aa (pass it on to their children). Hope that helps. For more info, Google Punnet Squares.



Posted by:  reset(Guest)  Posted on: 04/23/2012
male cant pass any symptoms because, they are XY and only the X holds the phenotype. female are XX so they can pass the phenotype. also male that has it cant hide it, because there is only 1 X. the X holds the genes so female may get XA Xa and that hide the phenotype because there is another X with lower case a.




Posted by:  slinkey3(Guest)  Posted on: 11/01/2011
ok so im a freshmen and i wanted to know if albinism occures more in humans or animals



Posted by:  Alone  Posted on: 10/30/2011
Can anyone tell me will my children have albinism if i marry a girl whose father have albinism?


Posted by:  awesome(Guest)  Posted on: 11/13/2011
you can go to genetic counceling to see if your children have a chance of having albinism. its all in genetics.



Posted by:  Jboyismyfriend  Posted on: 02/28/2012
Yeah, just see 2 comments up [pink_y]. Or, just read what I commented here: Yeah, in Biology, I learned things such as Punnet Squares. If 2 capital A’s are in the genotype (AA), then they are not albino. If 2 lowercase a’s are in their genotype (aa), then they will be. If it is one of each (Aa), then they will not be albino, but they can pass it on to their kids. You have aa. Someone without albinism in their family at all is AA. If you marry that dude, your child will be Aa (they will not show albinism, but they can pass it on to their kids. If they marry someone with AA, the child will have a 50% chance of AA and a 50% chance of Aa ). If you marry someone with albinism in their family (Aa [actually, they could be AA also, but it is unlikely {it all depends on the parents}]) then your child will have a 50% chance aa (full albino) and a 50% chance Aa (pass it on to their children). Hope that helps. For more info, Google Punnet Squares.




Posted by:  kersisparkle(Guest)  Posted on: 09/05/2011
I have a new friend at school that has this. He is the sweetest boy ever and I swear he acts no different than any other teenage boy on this earth [: But I'm always afraid to talk to him about this stuff like asking him questions I basically pretend like I don't notice that he's a black kid that's white. So this was helpful


Posted by:  Alone  Posted on: 10/30/2011
I am planning to marry a woman whose father has albinism. Will i my children have albinism if I marry that woman though she does not have albinism.



Posted by:  Jboyismyfriend  Posted on: 02/28/2012
No. You have a 1 in 4 chance, though, that you child will have Aa, in which they can pass it on to their children. Otherwise, they will be AA, where they have not albinism at all. I think I just commented on you before.




Posted by:  nikta  Posted on: 08/09/2011
I and my cousine carry albinism gene and neither of us have albinism,is it possible to change one of our gene or is there a way that we can born a healthy baby?


Posted by:  Jboyismyfriend  Posted on: 02/28/2012
Not exactly sure I understand. You seem to carry Aa, so if you have a baby dude person with someone who is not related to albinos, your children will not have it. However, your baby dude people will have a 1 in 4 chance each that they will have the same traits that you do.



Posted by:  nikta  Posted on: 03/03/2012
ya i know what u say but we love each other and we want to marry.i heard that there is a way to replace defective gene with healthy gene.is it true?




Posted by:  YoJim(Guest)  Posted on: 02/08/2011
Albinos creep me out!


Posted by:  mrelucious(Guest)  Posted on: 02/09/2012
why do you have to say something as awful as that we are as human as you are the different is only that we are light skin




Posted by:  owleyez(Guest)  Posted on: 08/10/2010
you guys are alllllll idiots LOL Im a senior with albinism!! PWNNNNNNNNNNNNNNN



Posted by:  IOnlyMadeThisLoginToPostThisComment(Guest)  Posted on: 03/11/2010
Omygosh! I'm a freshman doing a project on albinism! I saw a picture of an albino peacock and it was gorgeous! well, I had better go and finish up with my project! :)


Posted by:  guest  Posted on: 03/15/2010
hahha wooooww mee too lol we are probly doing the same project and i thought the albino peacock was beautiful



Posted by:  guest  Posted on: 04/26/2010
im doing a project on albinism tooooo!! holy cow.



Posted by:  guest  Posted on: 05/11/2010
same here!!!! its so awesome



Posted by:  guest  Posted on: 05/12/2010
ALL OF US! WOWOW! [ and yeah, that peacock is absolutly beautifull]



Posted by:  guest  Posted on: 06/09/2010
Well we had someone doing this for a project for March, April, and May. I figured I would make the June person!



Posted by:  moonbeam.stardust(Guest)  Posted on: 12/13/2010
same here. but i'm in middle skool!




Posted by:  d_pennell(Guest)  Posted on: 02/09/2010
hi my name is Darean Pennell i live in lansing michigan and i am a freshman in high school. i am doing a paper on people with albinism and have found out alot of stuff. even though i am not ill i fill for any one who is and thank you for this infomation


Posted by:  guest  Posted on: 02/22/2010
hey! I'm a freshman doing a project on albinism too.
haha. just thought i'd point that out.



Posted by:  guest  Posted on: 02/24/2010
I am also doing a project, except I am a sophomore. Get owned.



Posted by:  guest  Posted on: 02/24/2010
im also doing a project but im a senior PWNED!



Posted by:  guest  Posted on: 03/01/2010
Hey, me too! High five!



Posted by:  guest  Posted on: 07/24/2010
it's very good topic.
im intrstd to this topic furture research for albunism



Posted by:  guest  Posted on: 03/08/2010
Oh ya. Well, I am a senior citizen in high school who has albinism. I win.



Posted by:  guest  Posted on: 03/22/2010
i own all of yall haha



Posted by:  guest  Posted on: 03/24/2010
eyyyy! ima freshman and im doin stuff about albinism too:p but im all confused



Posted by:  guest  Posted on: 03/28/2010
I think it is statistically proven that most [9/10] people who look up anything related to albinism are in high school or college



Posted by:  guest  Posted on: 04/02/2010
no Im in junior high



Posted by:  guest  Posted on: 04/06/2010
Sophmore oover heree



Posted by:  guest  Posted on: 04/26/2010
i'm a freshman doing a project on it toooo! how coooooolllllll are weeeeee!!



Posted by:  MTDezarr(Guest)  Posted on: 02/07/2012
Im a biologist, studying about this still you all have alot to learn young fellas.



Posted by:  tana.mon.hanna(Guest)  Posted on: 05/15/2012
i m am making a brochure for the local doctor surgery, i am also an albino with marfan syndrome. whatta mix..




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