TY - JOUR
T1 - The genotype of a new linked DNA marker, MP6d-9, is related to the clinical course of cystic fibrosis
AU - Gasparini, Paolo
AU - Novelli, Giuseppe
AU - Estivill, Xavier
AU - Olivieri, Dario
AU - Savoia, Anna
AU - Ruzzo, Anna
AU - Nunes, Virginia
AU - Borgo, Graziella
AU - Antonelli, Mariano
AU - Williamson, Robert
AU - Pignatti, Pier Franco
AU - Dallapiccola, Bruno
PY - 1990/1
Y1 - 1990/1
N2 - The clinical symptoms of a cohort of cystic fibrosis patients were related to their genotypes using RFLPs shown with MspI and the closely linked DNA marker MP6d-9. In the majority of CF chromosomes, the restriction site for MspI was present, and the genotype 2/2 was found most often in patients who were severely affected by the disease. The genotype 1/2 was significantly overrepresented in patients with very mild clinical manifestations, including pancreatic sufficiency, absence of meconium ileus, and absence of Pseudomonas colonisation. When pancreatic dysfunction was present, the 1/2 genotype was associated with a mild form, while the 2/2 genotype was found in patients with severe insufficiency. None of our patients had the 1/1 genotype. These results indicate that the newly isolated MP6d-9 marker correlates with some important symptoms of cystic fibrosis.
AB - The clinical symptoms of a cohort of cystic fibrosis patients were related to their genotypes using RFLPs shown with MspI and the closely linked DNA marker MP6d-9. In the majority of CF chromosomes, the restriction site for MspI was present, and the genotype 2/2 was found most often in patients who were severely affected by the disease. The genotype 1/2 was significantly overrepresented in patients with very mild clinical manifestations, including pancreatic sufficiency, absence of meconium ileus, and absence of Pseudomonas colonisation. When pancreatic dysfunction was present, the 1/2 genotype was associated with a mild form, while the 2/2 genotype was found in patients with severe insufficiency. None of our patients had the 1/1 genotype. These results indicate that the newly isolated MP6d-9 marker correlates with some important symptoms of cystic fibrosis.
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M3 - Article
C2 - 1968514
AN - SCOPUS:11944254268
VL - 27
SP - 17
EP - 20
JO - Journal of Medical Genetics
JF - Journal of Medical Genetics
SN - 0022-2593
IS - 1
ER -