摘要
目的:通过对存在先天性外中耳畸形合并耳前瘘管家族的染色体研究,探讨染色体与先天性外中耳畸形合并耳前瘘管家族的遗传因素关系。方法:收集3个先天性外中耳畸形合并耳前瘘管的家系成员的临床资料,绘制家系图谱,抽取家系成员的外周静脉血样进行染色体核型分析。结果:收集3个家族三代家族成员共21例,其中发现染色体异常9例,其中患者3例,携带者6例,包括3个家族中父亲及祖父,表现均为染色体结构异常。结论:这3个家族先天性外中耳畸形合并耳前瘘管的遗传模式符合常染色体隐性遗传,家系调查有助于先天性外中耳畸形的进一步研究。
Objective:To investigate the genetic relationship between chromosome and congenital external-middle ear malformation combined with pre-auricular fistula(CEMEMPAF)family by studying the chromosomes of CEMEMPAF family.Methods:We collected the clinical data of 3 family members of CEMEMPAF,and drawn the family pedigree.Karyotype analysis extracted the peripheral venous blood samples of the family members.Results:21 people in three families of three generations were collected,among which 9 were found to have chromosomal abnormalities,including 3 patients and 6 carriers,including fathers and grandparents in 3 families.Chromosomal abnormalities are all expressed as abnormal chromosomal structure.Conclusion:The genetic pattern of CEMEMPAF in these three families is consistent with autosomal recessive inheritance.Family surveys are helpful for further study of congenital external-middle ear malformations.
作者
陈赛明
周小柳
陈穗俊
张华宋
李智群
何金龙
CHEN Sai-ming;ZHOU Xiao-liu;CHEN Sui-jun;ZHANG Hua-song;LI Zhi-qun;HE Jin-long(Department of ENT,First Affiliated Hospital of Hainan Medical College,Haikou 570102,Hainan,China;Otorhinolaryngology Head and Neck Surgery of Sun Yatsen Memorial Hospital of Sun Yatsen University,Guang Zhou,510120,Guangdong,China)
出处
《海南医学院学报》
CAS
2019年第8期631-634,共4页
Journal of Hainan Medical University
基金
海南省卫生计生行业科研项目(16A200106)~~
关键词
外中耳畸形
染色体
家系
调查
External-middle ear malformation
Chromosome
Family
Survey
