Advances in Genetics in Dermatology

Baden, Howard P.; Hooker, P A

doi:10.1007/978-1-4615-8315-8_2

Advances in Human Genetics 1982

DOI: 10.1007/978-1-4615-8315-8_2

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Advances in Genetics in Dermatology

Howard P. Baden

P A Hooker

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1984

1988

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Cited by 2 publications

References 286 publications

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The mode of inheritance of psoriasis: Evidence for a major gene as well as a multifactorial component and its implication for genetic counselling

Iselius

Williams

1984

Hum Genet

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Complex segregation analysis of Lomholt's family data on psoriasis on the Faroe Islands gave evidence for an additive major gene with gene frequency of 0.07 and penetrance 0.12 and 0.44 in the heterozygote and in the homozygote, respectively. In addition, there was a multifactorial component with heritability 0.87. The implications of these findings for genetic counseling are discussed and analytical risk figures are presented for chosen pedigrees.

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The mode of inheritance of psoriasis: Evidence for a major gene as well as a multifactorial component and its implication for genetic counselling

Iselius

Williams

1984

Hum Genet

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Trichothiodystrophy – Biochemical and Clinical Studies

Gillespie

Marshall²,

Rogers

1988

Aust J Dermatology

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We are reporting the clinical examination of two children with abnormal hair together with a microscopic and biochemical examination of their hairs. A diagnosis of trichothiodystrophy (TTD) is suggested since both hair samples are cystine-deficient and contain abnormal patterns ofamino acids and proteins. The cystine deficiency was found to be due to a reduction in the amount and cystine content of the high-sulphur (HS)* protein fraction. An electrophoretic study of the two samples of HS protein gave patterns which differed in a major way from the pattern of a normal HS fraction with the loss of most normal components including the ultra-high-sulphur fraction. The pattern of spots of the two abnormal HS proteins not only differed from the normal but from each other and from a third sample of protein from a previously studied TTD hair. It is suggested that this may provisionally support the concept of heterogeneity of TTD.

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Advances in Genetics in Dermatology

Cited by 2 publications

References 286 publications

The mode of inheritance of psoriasis: Evidence for a major gene as well as a multifactorial component and its implication for genetic counselling

The mode of inheritance of psoriasis: Evidence for a major gene as well as a multifactorial component and its implication for genetic counselling

Trichothiodystrophy – Biochemical and Clinical Studies

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