摘要
目的探讨热性惊厥(FC)的遗传方式和遗传特点.方法对1986～2002年记录较完整的64个多病例FC患者家系进行分析研究,绘制较详细的家系谱,对多病例家系和核心家系进行研究.结果64个多病例FC家系中,发现1个家系有8个FC病例,1个家系有7个,3个家系有6个,4个家系有5个,7个家系有4个,19个家系有3个,30个家系有2个.其外显率为0.62.先证者同胞的患病率为26.5%;患儿父母之一受累为45.3%,其中母亲受累占28.0%;Ⅰ级亲属患病率为34.4%,Ⅱ、Ⅲ级亲属患病率分别为10.9%、4.2%.结论FC存在明显的遗传异质性,其遗传模式呈常染色体显性遗传伴不完全外显性.
Objective To investigate the inherited mode and features of febrile convulsion (FC). Methods Pedigrees analysis was carried out in 64 FC children with detailed family histories from 1986 to 2002 in order to investigate the mode of FC inheritance and its characteristics. Family trees had been drawn and the multicase families and core families were analyzed. Results We found that 1 family had 8 FC cases in these 64 multicase families, 1 family with 7 cases, 3 families with 6 cases, 4 families with 5 cases, 7 families with 4 cass, 19 families with 3 cases ,and the other 30 families with 2 cases. The penetrance rate was 0.62. The siblings' prevalence rate of these probands was 26.5 % ,45.3 % of FC children's fathers or mothers had the history of FC, and 28.0 % of children's mothers only had the history of FC, with their first degree relative's prevalence rate 34.4 % ,and the prevalence rate of their Ⅱ or Ⅲ degree relatives was 10.9 % or 4.2 %. Conclusion FC has obvious heterogeneity,and its mode of inheritance is autosomal dominant inheritance with reduced penetrance.
出处
《实用儿科临床杂志》
CAS
CSCD
北大核心
2004年第10期866-867,共2页
Journal of Applied Clinical Pediatrics
关键词
惊厥
发热性
遗传
家系分析
febrile convulsion
heredity
family analysis
