遗传 ›› 1998, Vol. 20 ›› Issue (1): 11-13.

• 论文 • 上一篇    下一篇

成骨不全显性遗传一家系五代28例报告

朱荣太; 孙长根; 王爱华; 章龙生 ZHU Rong-Tai;SUN Chang-Gen;WANG Ai-Hua;ZHANG Long-Sheng   

  1. 建湖县人民医院, 建湖 224700 Jianhu peoples Hospital of Jiangsu Province.Jianhu 224700
  • 收稿日期:1900-01-01 出版日期:1998-02-10 发布日期:1998-02-10

A Report on 28 Cases in Five Generations in the Family of Autosomal Dominant Interifant Disease of Osteogenesis Imperfecta

  • Received:1900-01-01 Online:1998-02-10 Published:1998-02-10

摘要: 对成骨不全先证者上溯5代372人进行家系调查,发现该家系共有28例成骨不全,其中已死亡10例(成人、儿童各5例),均非死于本病;现生存18例(成人12例、儿童6例)。该28例均身材矮小、身高显著低于同龄正常者;均有蓝色巩膜;符合常染色体显性遗传缺陷的结缔组织病。现存活18例中,耳聋、听力下降6例;骨折9例(22例次),对照文献中分型标准,本组28例与Ⅰ型、Ⅲ型的部分临床特征相符,是否系介于Ⅰ型、Ⅲ型之间的亚型,有待于进一步研究。
Abstract:A pedigree investigation was carried out on 372 relatives in five generations of a proband of osteogenesis imperfecta.The results showed that there were 28 patients in the family.10 of them died from other causes(5 adults and 5 children respectively).Other 18 cases are alive(12 adults and 6 children respectively).The height of the 28 cases were significantly lower than those of the same age.Furthermore,they all had blue scleras.Their clinical manifestations conformed to those of autosomal dominant hereditary connective tissue disease.Among the living 18 cases,6 suffered from deafness or hearing loss and 0 suffered from fracture(22 person-time altogether).According to the classification criteria in the literature,the clinical manifestations of the 28 cases conformed to those of type I and type III,It is necessary to study further whether they belonged to the subtype between type I and type III.

关键词: 成骨不全, 常染色体显性遗传, 家系调查
Key words,
Osteogenesis imperfecta, Autosomal dominant heredity, 分子系统树, 亚种分化, 中国貉, RAPD

Key words: Nyctereutes RAPD Molecular phylogenetic tree Subspecies