A discordant sibship analysis between beta-NGF and neurofibromatosis.
A new restriction fragment length polymorphism 5' to the beta-nerve growth factor (beta-NGF) gene has been found in proximity to the BglII polymorphism, and both polymorphisms are detectable with an EcoRI 7-kilobase (kb) subclone. Absence of the TaqI recognition site lengthens the 4.3-kb and 1.7-kb hybridizing fragments to 6 kb, and the alleles are in Hardy-Weinberg equilibrium with frequencies of 83% and 17%, respectively. Previous research has suggested that NGF is involved in disseminated neurofibromatosis (NF). We found four informative disseminated NF families with the two beta-NGF polymorphisms and have provided clearcut evidence against beta-NGF gene alteration in these families. If disseminated NF is found to be heterogeneous at a molecular level, more families should be tested to further rule out any role for beta-NGF in this syndrome.
Darby
J K
JK
Feder
J
J
Selby
M
M
Riccardi
V
V
Ferrell
R
R
Siao
D
D
Goslin
K
K
Rutter
W
W
Shooter
E M
EM
Cavalli-Sforza
L L
LL
D001483:Base Sequence; D003001:Cloning, Molecular; D004262:DNA Restriction Enzymes; D005260:Female; D005819:Genetic Markers; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D008126:Lod Score; D008297:Male; D009414:Nerve Growth Factors / Q000235:genetics*; D009456:Neurofibromatosis 1 / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic
D005819:Genetic Markers; D009414:Nerve Growth Factors; D004262:DNA Restriction Enzymes