摘要
目的检测一个Reis-Bucklers角膜营养不良(RBCD)遗传家系致病基因突变情况。方法对家系内17名成员进行完整的眼科检查,包括视力、裂隙灯和眼底检查,并抽取外周血提取DNA,采用聚合酶链反应(PCR)和直接测序法检测TGFBI基因的全部16个外显子,筛查TGFBI基因突变情况,定位致病突变位点。结果共检出9例患者,其中男6例,女3例,临床诊断为Reis-Bucklers角膜营养不良,该家系遗传方式为常染色体显性遗传。在9例患者外周血DNA中检测到TGFBI基因c.418G>T突变,而该家系内未受累成员和100名正常对照者中未检测到该突变。结论 TGFBI基因c.418G>T(p.R124L)突变是该家系的致病突变。
Objective To investigate the mutation profile of morbid gene in a pedigree with Reis-Bucklers corneal dystrophy （RBCD）. Methods All 17 subjects （9 males and 8 females） of this pedigree underwent a complete ophthalmologic evaluation, including visual acuity test, corneal sensitivity test, Schirmer teat, slit-lamp examination, fundus examination, and tonometry. The DNA was extracted from peripheral blood. The polymerase chain reaction （PCR） and direct sequencing were used to detect exons 1-16 of the TGFBI gene, screen the mutation profile of TGFBI gene and locate the position of disease-causing mutation. Results There were 9 members in this pedigree （6 males and 3 females） displayed RBCD （granular corneal dystrophy type 3）, presenting an autosomal dominant pattern of inheritance. The TGFBI c. 418G 〉T mutation was detected in all the nine patients, and they was absent in both the unaffected persons in the pedigree and 100 normal controls. Conclusion The mutation p. R124L（c. 418G〉T） in TGFBI could be responsible for RBCD in this pedigree.
出处
《解放军医学杂志》
CAS
CSCD
北大核心
2014年第6期494-497,共4页
Medical Journal of Chinese People's Liberation Army
关键词
角膜营养不良
遗传学
突变
系谱
corneal dystrophies, hereditary
mutation
pedigree
