Effect of genetic counselling on the prevalence of Huntington's chorea.
Effect of genetic counselling on the prevalence of Huntington's chorea.
复制标题
遗传咨询对亨廷顿舞蹈病患病率的影响。
DOI：
10.1136/bmj.286.6361.281
复制
发表时间：
1983
期刊：
影响因子：
--
通讯作者：
M. Baraitser
中科院分区：
文献类型：
--
作者：
C. Carter;K. Evans;M. Baraitser
亨廷顿舞蹈症患者的儿子和女儿的相对生育率被发现略低于0.5，如果他们在组建家庭之前就被告知了传播疾病的风险。在那些曾在患病儿童医院的遗传诊所就诊的人和那些直接或间接通过患者的配偶或家庭医生--在国家神经疾病医院照顾受影响的父母的神经科医生--告知他们风险的人中，效果大致相同。如果患者的所有后代都被告知他们的风险，对这种疾病患病率的影响将是巨大的，特别是如果突变率很低，而且过去患者的生殖适合度接近1.0。然而，有患这种疾病风险的男性和女性不应该只看一次：他们需要通过定期在一家特殊的神经遗传学诊所接受治疗来继续得到支持。
The relative fertility of sons and daughters of patients with Huntington's chorea was found to be a little under 0.5 if they had been told of their risk of transmitting the disease before they had started their families. The effect was much the same in those who had attended the genetic clinic at The Hospital for Sick Children on a single occasion and those who had been told of their risk directly, or indirectly through the patient's spouse or family doctor, by the neurologist who was looking after their affected parent at the National Hospital for Nervous Diseases. If all offspring of patients were informed of their risk the effect on the prevalence of the disorder would be substantial, especially if the mutation rate is low and the reproductive fitness of patients in the past has been close to 1.0. Men and women at risk of developing the disease should not be seen on just one occasion, however: they need continued support by being seen regularly at a special neurological genetic clinic.