摘要
目的通过一个家系分析,探讨先天性外胚层发育不全疾病的遗传方式。方法现场对一个无汗先天性外胚层发育不全家系四代27例家庭成员进行调查,并对1例患者进行医学分析。结果患者主要表现为头发稀疏,无牙,无体毛,无汗等症状。家系遗传分析表明该疾病属于X连锁隐性遗传疾病。结论本病发病机制与X染色体上的基因缺陷有关,如ED1、NEMO等,据此可开展进一步基因突变检测。
Objective： To investigate the genetic pattern of a inheritary hypohidrotic ectodermal dysplasia in a family. Methods： All individuals were investigated by genetic and medical methods. Results ： There were 4 patients in the pedigrees which include 4 degrees and 27 individuals, primary symptom of patients was sparse hair, body hair, without normal sweat production and tooth abnor- malities. Pedigree analysis indicated that the pedigrees was a X -linked recessive inheritary hypohidrotic ectodermal dysplasia. Conclusion： Gene （such as ED1, NEMO etc） abnormality in X chromosome may be involved in the disease.
出处
《中国优生与遗传杂志》
2009年第10期104-105,共2页
Chinese Journal of Birth Health & Heredity
