A GENETIC-STUDY OF VONRECKLINGHAUSEN NEUROFIBROMATOSIS IN SOUTH EAST WALES .1. PREVALENCE, FITNESS, MUTATION-RATE, AND EFFECT OF PARENTAL TRANSMISSION ON SEVERITY
A GENETIC-STUDY OF VONRECKLINGHAUSEN NEUROFIBROMATOSIS IN SOUTH EAST WALES .1. PREVALENCE, FITNESS, MUTATION-RATE, AND EFFECT OF PARENTAL TRANSMISSION ON SEVERITY
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DOI：
10.1136/jmg.26.11.704
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发表时间：
1989-11-01
影响因子：
4
通讯作者：
HARPER, PS
中科院分区：
文献类型：
--
作者：
HUSON, SM;COMPSTON, DAS;HARPER, PS
在威尔士东南部（英国）（人口668 100）进行的一项基于人群的von Recklinghausen神经纤维瘤病研究确定了69个家庭，135名受影响成员（患病率为1/4950）。在这些家庭中，NF-1基因在5岁时的突变率为100%。NF-1患者的遗传适合度降低到0.47，男性比女性的影响更明显（分别为f = 0.31和0.60）。135个病例中的41个被判断为代表新的疾病突变，估计突变率在3.1 × 10 - 4之间。10-5和10.4倍。10-5.没有发现新突变的父母年龄效应，也没有发现母亲对疾病严重程度的影响。
A population based study of von Recklinghausen neurofibromatosis in south east Wales (UK) (population 668 100) identified 69 families with 135 affected members (prevalance 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 .times. 10-5 and 10.4 .times. 10-5. A parental age effect for new mutations was not found, nor was a maternal effect on disease severity.