Literature DB >> 3091836

Differentiation of heterozygotes in recessive albinism.

D F Roberts, J G Kromberg, T Jenkins.   

Abstract

Skin pigmentation was measured by reflectance spectrophotometry in 43 albinos, 44 of their relatives, and 123 random controls among Swazi subjects in southern Africa. Mean reflectance of the subject groups diminishes in the sequence affected subjects, obligate heterozygotes, other unaffected family members, random subjects, and the differences among the unaffected groups are highly significant. A discriminant function fitted to the obligate heterozygotes and random subjects is significant statistically but is not efficient enough to be applied in the diagnosis of the non-carrier state.

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Year:  1986        PMID: 3091836      PMCID: PMC1049698          DOI: 10.1136/jmg.23.4.323

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  6 in total

1.  THE MELANOCYTES AND MELANIN IN HUMAN ABDOMINAL WALL SKIN: A SURVEY MADE AT DIFFERENT AGES IN BOTH SEXES AND DURING PREGNANCY.

Authors:  R S SNELL; P G BISCHITZ
Journal:  J Anat       Date:  1963-07       Impact factor: 2.610

2.  Symposium on metabolic diseases of the eye. Albinism.

Authors:  P D TREVOR-ROPER
Journal:  Proc R Soc Med       Date:  1963-01

3.  Tyrosinase activity in melanocytes of human albinos.

Authors:  T P KUGELMAN; E J VAN SCOTT
Journal:  J Invest Dermatol       Date:  1961-07       Impact factor: 8.551

4.  Albinism in Northern Ireland.

Authors:  P FROGGATT
Journal:  Ann Hum Genet       Date:  1960-07       Impact factor: 1.670

5.  Influence of age and UV on the populations of dopa-positive melanocytes in human skin.

Authors:  W C Quevedo; G Szabó; J Virks
Journal:  J Invest Dermatol       Date:  1969-03       Impact factor: 8.551

6.  Prevalence of albinism in the South African negro.

Authors:  J G Kromberg; T Jenkins
Journal:  S Afr Med J       Date:  1982-03-13
  6 in total
  3 in total

1.  Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene.

Authors:  Robert Aquaron; Nadem Soufir; Jean-Louis Bergé-Lefranc; Catherine Badens; Frederic Austerlitz; Bernard Grandchamp
Journal:  J Hum Genet       Date:  2007-09-01       Impact factor: 3.172

2.  Visual evoked potentials in Negro carriers of the gene for tyrosinase positive oculocutaneous albinism.

Authors:  D Castle; J Kromberg; R Kowalsky; R Moosa; N Gillman; E Zwane; V Fritz
Journal:  J Med Genet       Date:  1988-12       Impact factor: 6.318

3.  Oculocutaneous albinism among schoolchildren in Harare, Zimbabwe.

Authors:  F Kagore; P M Lund
Journal:  J Med Genet       Date:  1995-11       Impact factor: 6.318

  3 in total

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