Literature DB >> 3742854

Segregation analysis of brown oculocutaneous albinism.

R A King, S S Rich.   

Abstract

The segregation of brown (type IV) oculocutaneous albinism was analyzed in 18 Nigerian families. Analysis using the POINTER program showed that this type of oculocutaneous albinism was inherited in an autosomal recessive pattern, with an estimated gene frequency of 0.025 +/- 0.007 in this population. The enzyme defect responsible for brown oculocutaneous albinism is unknown.

Mesh：

Year:  1986        PMID： 3742854     DOI： 10.1111/j.1399-0004.1986.tb00550.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  5 in total

1.  Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3".

Authors:  R E Boissy; H Zhao; W S Oetting; L M Austin; S C Wildenberg; Y L Boissy; Y Zhao; R A Sturm; V J Hearing; R A King; J J Nordlund
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

2.  Vision in albinism.

Authors:  C G Summers
Journal:  Trans Am Ophthalmol Soc       Date:  1996

3.  In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified.

Authors:  P Manga; J Kromberg; A Turner; T Jenkins; M Ramsay
Journal:  Am J Hum Genet       Date:  2001-02-09       Impact factor: 11.025

Review 4.  Evolutionary genetics of skin pigmentation in African populations.

Authors:  Yuanqing Feng; Michael A McQuillan; Sarah A Tishkoff
Journal:  Hum Mol Genet       Date:  2021-04-26       Impact factor: 6.150

5.  Complex interactions of Tyrp1 in the eye.

Authors:  Hong Lu; Liyuan Li; Edmond R Watson; Robert W Williams; Eldon E Geisert; Monica M Jablonski; Lu Lu
Journal:  Mol Vis       Date:  2011-09-22       Impact factor: 2.367
  5 in total

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