Darby J K, Feder J, Selby M, Riccardi V, Ferrell R, Siao D, Goslin K, Rutter W, Shooter E M, Cavalli-Sforza L L
Am J Hum Genet. 1985 Jan;37(1):52-9.
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.
在β-神经生长因子(β-NGF)基因5'端发现了一种新的限制性片段长度多态性,其与BglII多态性相邻,并且这两种多态性都可以用EcoRI 7千碱基(kb)亚克隆检测到。TaqI识别位点的缺失将4.3 kb和1.7 kb的杂交片段延长至6 kb,等位基因处于哈迪-温伯格平衡,频率分别为83%和17%。先前的研究表明,NGF与播散性神经纤维瘤病(NF)有关。我们发现了四个具有两种β-NGF多态性的信息丰富的播散性NF家族,并提供了明确的证据证明这些家族中β-NGF基因没有改变。如果发现播散性NF在分子水平上是异质性的,则应检测更多家族,以进一步排除β-NGF在该综合征中的任何作用。