A discordant sibship analysis between β-NGF and neurofibromatosis

• Published in: American journal of human genetics Vol. 37; no. 1; pp. 52 - 59
• Main Authors: DARBY, J. K, FEDER, J, SELBY, M, RICCARDI, V, FERRELL, R, SIAO, D, GOSLIN, K, RUTTER, W, SHOOTER, E. M, CAVALLI-SFORZA, L. L
• Format: Journal Article
• Language: English
• Published: Chicago, IL University of Chicago Press 1985
• Subjects: Base Sequence; Biological and medical sciences; Cloning, Molecular; DNA Restriction Enzymes; Female; genes; Genetic Markers; Genetic Variation; Genotype; Humans; Lod Score; Male; man; Medical sciences; nerve growth factor; Nerve Growth Factors - genetics; neurofibromatosis; Neurofibromatosis 1 - genetics; Neurology; Pedigree; Polymorphism, Genetic; Tumors of the nervous system. Phacomatoses; Human; Phakomatosis; Skin disease; Family study; Nerve growth factor; Restriction fragment; Tumor; Neurofibromatosis Recklinghausen; Genetic disease; Polymorphism
• ISSN: 0002-9297; 1537-6605

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.