[Use of the recombinant DNA technic in studying cystic fibrosis in 14 Spanish families: detection of carriers and healthy subjects].
Fourteen Spanish families, containing at least one affected child with cystic fibrosis, were typed for restriction fragment length polymorphisms (RFLPs) by proper pJ3.11, pmet H and pmet D. Nine (64.3%) were fully informative for prenatal diagnosis and carrier detection; four (28.5%) were partially informative and prenatal exclusion of an affected fetus could be carried out in half of pregnancies. One (7.1%) was uninformative for these probes. Allelic frequencies obtained have also been analized, being pJ3.11 probe the most informative in our families.
Fernández García
E
E
Departamento de Genética, Fundación Jiménez Díaz, Madrid.
Benítez Ortiz
J
J
Villamar López
M
M
Ayuso García
C
C
Ramos Corrales
C
C
Sánchez Cascos
A
A
Baiget
M
M
Del Río
E
E
D000483:Alleles; D002648:Child; D003550:Cystic Fibrosis / Q000235:genetics*; D004274:DNA, Recombinant; D005260:Female; D005787:Gene Frequency; D005817:Genetic Counseling; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis
D004274:DNA, Recombinant
Aplicación de las técnicas de ADN recombinante al estudio de 14 familias españolas con fibrosis quística: detección de portadores y sanos.