[Molecular biology and mucoviscidosis. Brest experience in 1987].
The gene for cystic fibrosis is located on the long arm of chromosome 7 at 7q31. The close linkage between the disease locus and several DNA markers allowed a study of the DNA restriction polymorphism pattern in 30 Breton families. The frequency of the haplotypes indicated by the probes pJ 3.11, met H and met D was established reaching a 66.6% informativity for the families studies. The complete informativity of a family allows for detection of heterozygous brothers and sisters, uncles and aunts and for antenatal screening on trophoblast biopsies in case of further pregnancies.
Département de Pédiatrie et Génétique Médicale, C.H.U. A. Morvan, Brest.
P
P
Parent
C
C
Ferec
M
M
Jehanne
J J
JJ
Chabaud
G
G
Boog
J P
JP
Saleun
D
D
Alix
D002648:Child; D002897:Chromosomes, Human, Pair 7; D003550:Cystic Fibrosis / Q000235:genetics* / Q000378:metabolism; D005602:France; D006801:Humans; D010375:Pedigree; D011110:Polymorphism, Genetic
Biologie moléculaire et mucoviscidose. Expérience brestoise en 1987.