[Molecular genetic study of a family with Kennedy syndrome including a symptomatic heterozygote].
Four men and one woman of the same family with Kennedy-type-bulbo-spinal amyotrophy have been followed up for 7 to 20 years. The genetic marker: insertion of repeated sequences of trinucleotide Cytosine-Adénine-Guanine described by Fischbeck and La Spada in Nature (1991), in the coding region of the androgen receptor gene, on the long arm of X chromosome, has been demonstrated here by DNA extraction and PCR amplification.
De Ferron
E
E
Clinique Neurologique, C.H.R.U. de Nantes.
Le Roux
M G
MG
Pascal
O
O
Moisan
J P
JP
Fève
J R
JR
D000328:Adult; D005260:Female; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D008967:Molecular Biology; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011944:Receptors, Androgen / Q000235:genetics; D013577:Syndrome; D014960:X Chromosome
D011944:Receptors, Androgen
Etude génétique moléculaire d'une famille atteinte du syndrome de Kennedy avec une hétérozygote symptomatique.