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1.
Br J Dermatol ; 176(5): 1270-1278, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-27664908

RESUMO

BACKGROUND: Xeroderma pigmentosum (XP) is a rare human syndrome associated with hypersensitivity to sunlight and a high frequency of skin tumours at an early age. We identified a community in the state of Goias (central Brazil), a sunny and tropical region, with a high incidence of XP (17 patients among approximately 1000 inhabitants). OBJECTIVES: To identify gene mutations in the affected community and map the distribution of the affected alleles, correlating the mutations with clinical phenotypes. METHODS: Functional analyses of DNA repair capacity and cell-cycle responses after ultraviolet exposure were investigated in cells from local patients with XP, allowing the identification of the mutated gene, which was then sequenced to locate the mutations. A specific assay was designed for mapping the distribution of these mutations in the community. RESULTS: Skin primary fibroblasts showed normal DNA damage removal but abnormal DNA synthesis after ultraviolet irradiation and deficient expression of the Polη protein, which is encoded by POLH. We detected two different POLH mutations: one at the splice donor site of intron 6 (c.764 +1 G>A), and the other in exon 8 (c.907 C>T, p.Arg303X). The mutation at intron 6 is novel, whereas the mutation at exon 8 has been previously described in Europe. Thus, these mutations were likely brought to the community long ago, suggesting two founder effects for this rare disease. CONCLUSIONS: This work describes a genetic cluster involving POLH, and, particularly unexpected, with two independent founder mutations, including one that likely originated in Europe.


Assuntos
Efeito Fundador , Mutação/genética , Neoplasias Cutâneas/genética , Xeroderma Pigmentoso/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Brasil/etnologia , Europa (Continente)/etnologia , Feminino , Heterozigoto , Homozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Células Tumorais Cultivadas , Xeroderma Pigmentoso/etnologia
3.
Med J Aust ; 1(4 Suppl): Spec suppl 38-40, 1975 May 10.
Artigo em Inglês | MEDLINE | ID: mdl-1152788

RESUMO

A random sample of 100 Aboriginal primary school children originally examined in February, 1970, was followed up in February, 1971, and February, 1972. Over this period, the incidence of hearing loss dropped from 41% to 23%. Most of the improvement occurred in the younger children, and, while this could be attributed to treatment in a few cases, the majority of children appeared to improve spontaneously. A complete school grade of 37 children aged six years in 1970 was retested six times over a period of three years. Again, there was a general improvement, from 60% incidence of hearing loss in 1970 to 22% in 1972. Most of this improvement was spontaneous. During the three years of observation (1970, 1971, 1972), 30 Aboriginal children from Cherbourg underwent surgery including myringotomy, myringoplasty and mastoidectomy. Operative successes and failures in these children are discussed.


Assuntos
Otopatias/epidemiologia , Etnicidade , Transtornos da Audição/epidemiologia , Adolescente , Austrália , Criança , Pré-Escolar , Colesteatoma/cirurgia , Drenagem , Otopatias/cirurgia , Seguimentos , Transtornos da Audição/cirurgia , Humanos , Processo Mastoide/cirurgia , Miringoplastia , Havaiano Nativo ou Outro Ilhéu do Pacífico , Membrana Timpânica/cirurgia
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