Your browser doesn't support javascript.
loading
Montrer: 20 | 50 | 100
Résultats 1 - 5 de 5
Filtrer
Plus de filtres











Base de données
Gamme d'année
2.
Clin Genet ; 49(2): 95-7, 1996 Feb.
Article de Anglais | MEDLINE | ID: mdl-8740921

RÉSUMÉ

The Zuni native Americans of the Southwest have an incidence of cystic fibrosis of approximately one in 333 or seven and one-half times that found for Caucasians. Earlier studies indicated that dF508 was not among the cystic fibrosis mutations causing this disease. Through a collaborative study the R1162X mutation was found on 12 out of 12 cystic fibrosis chromosomes from six Zuni patients. Because of the relative high incidence of cystic fibrosis, we undertook a study to determine the carrier frequency of the R1162X mutation among randomly sampled individuals. We found the carrier frequency in the general population for the R1162X to be 6.7%, a very significant number when compared with the carrier frequency for all cystic fibrosis mutations in the Caucasian population of approximately 4%.


Sujet(s)
Mucoviscidose/génétique , Fréquence d'allèle , Indiens d'Amérique Nord/génétique , Adulte , Femelle , Hétérozygote , Humains , Mutation/génétique , Nouveau Mexique/ethnologie
5.
J Pediatr ; 95(5 Pt 2): 895-904, 1979 Nov.
Article de Anglais | MEDLINE | ID: mdl-114617

RÉSUMÉ

The monkey is a potential model for BPD since there is considerable background information on the normal-developing lung, the prematurely delivered infant is viable, HMD can be produced, the infant is large enough to permit physiologic measurements, and it should be possible to test the effects of positive pressure, oxygen, and pharmacologic agents. Clearly further information is needed on the cellular and subcellular changes occurring during the acute and recovery stages of HMD. The monkey has already proven to be of value in this inquiry. Studies on mechanisms of altered lung repair by various injurious agents are needed, and will require an animal model as well as in vitro systems. Basic understanding of the pathogenesis of bronchopulmonary dysplasia with establishment of the relative importance of the contributing factors should help in our efforts to prevent or minimize chronic lung disease in the newborn infant.


Sujet(s)
Modèles animaux de maladie humaine , Maladies néonatales/anatomopathologie , Maladies pulmonaires/anatomopathologie , Poumon/anatomopathologie , Animaux , Haplorhini , Humains , Maladie des membranes hyalines/complications , Nouveau-né , Macaca
SÉLECTION CITATIONS
DÉTAIL DE RECHERCHE