Huson S M, Compston D A, Clark P, Harper P S
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff.
J Med Genet. 1989 Nov;26(11):704-11. doi: 10.1136/jmg.26.11.704.
A population based study of von Recklinghausen neurofibromatosis in south east Wales (population 668,100) identified 69 families with 135 affected members (prevalence 1/4950 of the population). In these families penetrance of the NF-1 gene was 100% by the age of five years. The genetic fitness of NF-1 sufferers was found to be reduced to 0.47, the effect being more marked in males than females (f = 0.31 and 0.60, respectively). Forty-one of 135 cases were judged to represent new disease mutations and the mutation rate was estimated to lie between 3.1 x 10(-5) and 10.4 x 10(-5). A parental age effect for new mutations was not found, nor was a maternal effect on disease severity.
一项针对威尔士东南部地区（人口668,100）冯·雷克林豪森神经纤维瘤病的人群研究，识别出69个家庭中有135名患者（患病率为1/4950）。在这些家庭中，NF-1基因在5岁时的外显率为100%。研究发现NF-1患者的遗传适合度降至0.47，这种影响在男性中比女性更明显（分别为f = 0.31和0.60）。135例病例中有41例被判定为新发疾病突变，突变率估计在3.1×10⁻⁵至10.4×10⁻⁵之间。未发现新发突变的亲代年龄效应，也未发现母亲对疾病严重程度的影响。
