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1.
Hum Mutat ; 13(2): 173, 1999.
Artigo em Inglês | MEDLINE | ID: mdl-10094564

RESUMO

Here we describe the identification of an italian patient homozygote for the D579G mutation affected by a mild form of Cystic Fibrosis with pancreatic sufficiency, minor lung involvement and marked viscosity of the cervical mucous. The D579G mutation causes an A1868G transition, a substitution of an aspartic acid to a glycine residue, generating an important amino acid change (charged to hydrophobic) in the nucleotide-binding domain (NBD). The mutation was first described by Brancolini et al. (1995) on two pancreatic sufficient CF patients, compound heterozygotes for delta508F. Patients were from Southern Italy (Puglia) as the D579G homozygote one, who is a 30 years old woman from Taranto (Puglia), daughter of second cousins born in Bari (Puglia). The identification of a homozygote D579G patient might confirm that this mutation does correlate with pancreatic sufficiency and a mild pulmonary phenotype.


Assuntos
Fibrose Cística/genética , Insuficiência Pancreática Exócrina/genética , Homozigoto , Adulto , Substituição de Aminoácidos/genética , Ácido Aspártico/genética , Feminino , Glicina/genética , Humanos , Pulmão/patologia
2.
Dis Markers ; 11(1): 29-35, 1993 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-8102950

RESUMO

RFLP HLA-DRB1 analysis was performed on a total of 83 children born from HIV-infected mothers, 35 of whom were shown to be HIV-infected, while 48 reverted from seropositivity to seronegativity, indicating that they were not infected. Moreover, 89 healthy children were used as controls. It has been found that DRB1-14a and DRB1-13a.4 alleles were not present in the HIV-infected children, but were found in the sero-reverted (HIV-uninfected) children (in the proportion of 9.6 per cent and 5.3 per cent, respectively), and in the controls (5.6 per cent and 3.9 per cent, respectively). The possible correlation between DR and risk of HIV transmission from mother to baby was analysed considering every single allele, estimated by the ratio between the number of infected children and the number of all children born from seropositive mothers. There was also introduced a statistic G for the control of 'statistical validity' of data.


Assuntos
Infecções por HIV/transmissão , Soropositividade para HIV/imunologia , Antígenos HLA-DR/genética , Antígenos de Histocompatibilidade Classe II/genética , Complicações Infecciosas na Gravidez/imunologia , Alelos , Feminino , Soropositividade para HIV/genética , Cadeias HLA-DRB1 , Humanos , Recém-Nascido , Polimorfismo de Fragmento de Restrição , Gravidez , Probabilidade , Risco
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